Skip to main content
SpringerLink
Log in

Schwann Cell and the Pathogenesis of Charcot–Marie–Tooth Disease

  • Chapter
  • First Online:
Myelin

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1190))

Abstract

Charcot–Marie–Tooth (CMT) disease is the most common hereditary neuropathy and genetically heterogeneous. CMT1 and CMTX are autosomal dominant and X-linked demyelinating neuropathies, respectively. CMT1A, CMT1B, and CMTX1 are the common forms of CMT, which are attributed to the genes encoding the myelin or gap junction proteins expressed in the myelinating Schwann cells. CMT4 is a rare autosomal recessive demyelinating neuropathy that usually shows an early-onset severe phenotype. Twelve genes have been described as CMT4, which encodes many kinds of proteins including mitochondrial proteins, phosphatases in the endosomal pathway, endocytic recycling proteins, and trafficking proteins. The genes responsible for CMT4 are expressed in Schwan cells and necessary for the development and maintenance in the peripheral nervous system. However, CMT1, CMT4, and CMTX1 are primarily demyelinating neuropathies, axonal degeneration is necessary for symptoms to develop. Schwann cell–axon interactions are impaired in the pathogenesis of demyelinating CMT.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 249.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Abe A, Numakura C, Kijima K, Hayashi M, Hashimoto T, Hayasaka K (2011) Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. J Hum Genet 56:364–368

    Article  CAS  PubMed  Google Scholar 

  • Anzini P, Neuberg DH, Schachner M, Nelles E, Willecke K, Zielasek J, Toyka KV, Suter U, Martini R (1997) Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J Neurosci 17:4545–4551

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Medard JJ, Tricaud N, Kleine H, Luscher B, Weis J, Suter U, Senderek J, Chrast R (2009) SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. Proc Natl Acad Sci U S A 106:17528–17533

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Auer-Grumbach M, Weger M, Fink-Puches R, Papic L, Frohlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhuttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C (2011) Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain 134:1839–1852

    Article  PubMed  Google Scholar 

  • Azzedine H, Bolino A, Taieb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E (2003) Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet 72:1141–1153

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Azzedine H, Ravise N, Verny C, Gabreels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E (2006) Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology 67:602–606

    Article  CAS  PubMed  Google Scholar 

  • Balice-Gordon RJ, Bone LJ, Scherer SS (1998) Functional gap junctions in the Schwann cell myelin sheath. J Cell Biol 142:1095–1104

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM (2002) Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 30:21–22

    Article  CAS  PubMed  Google Scholar 

  • Ben Othmane K, Rochelle JM, Ben Hamida M, Slotterbeck B, Rao N, Hentati F, Pericak-Vance MA, Vance JM (1998) Fine localization of the CMT4A locus using a PAC contig and haplotype analysis. Neurogenetics 2:18–23

    Article  CAS  PubMed  Google Scholar 

  • Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, Haberlova J, Weiss MD, Timmerman V, Bird TD, Chance PF (2004) SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Ann Neurol 55:713–720

    Article  CAS  PubMed  Google Scholar 

  • Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U (2006) Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Hum Mol Genet 15:569–579

    Article  CAS  PubMed  Google Scholar 

  • Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993) Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039–2042

    Article  CAS  PubMed  Google Scholar 

  • Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR (2001) Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet 68:325–333

    Article  CAS  PubMed  Google Scholar 

  • Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M (1996) Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet 5:1051–1054

    Article  CAS  PubMed  Google Scholar 

  • Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP (2000) Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 25:17–19

    Article  CAS  PubMed  Google Scholar 

  • Bolis A, Coviello S, Bussini S, Dina G, Pardini C, Previtali SC, Malaguti M, Morana P, Del Carro U, Feltri ML, Quattrini A, Wrabetz L, Bolino A (2005) Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. J Neurosci 25:8567–8577

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bolis A, Zordan P, Coviello S, Bolino A (2007) Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system. Mol Neurobiol 35:308–316

    Article  CAS  PubMed  Google Scholar 

  • Brennan KM, Bai Y, Shy ME (2015) Demyelinating CMT—what’s known, what’s new and what’s in store? Neurosci Lett 596:14–26

    Article  CAS  PubMed  Google Scholar 

  • Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143–151

    Article  CAS  PubMed  Google Scholar 

  • Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH (2007) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 448:68–72

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Cottenie E, Menezes MP, Rossor AM, Morrow JM, Yousry TA, Dick DJ, Anderson JR, Jaunmuktane Z, Brandner S, Blake JC, Houlden H, Reilly MM (2013) Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscul Disord 23:399–403

    Article  PubMed  Google Scholar 

  • Crimella C, Tonelli A, Airoldi G, Baschirotto C, D’Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT (2010) The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. J Med Genet 47:712–716

    Article  CAS  PubMed  Google Scholar 

  • Cuesta A, Pedrola L, Sevilla T, Garcia-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marin I, Vilchez JJ, Palau F (2002) The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 30:22–25

    Article  CAS  PubMed  Google Scholar 

  • D’Urso D, Prior R, Greiner-Petter R, Gabreels-Festen AA, Muller HW (1998) Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. J Neurosci 18:731–740

    Article  PubMed  PubMed Central  Google Scholar 

  • De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V (2001) Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 49:245–249

    Article  PubMed  Google Scholar 

  • de Waegh SM, Lee VM, Brady ST (1992) Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells. Cell 68:451–463

    Article  PubMed  Google Scholar 

  • Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Megarbane A, Haase G, Levy N (2007) Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet 81:1–16

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayencon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B (2013) SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. Neurology 81:1523–1530

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Fledrich R, Stassart RM, Klink A, Rasch LM, Prukop T, Haag L, Czesnik D, Kungl T, Abdelaal TA, Keric N, Stadelmann C, Bruck W, Nave KA, Sereda MW (2014) Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A. Nat Med 20:1055–1061

    Article  CAS  PubMed  Google Scholar 

  • Fortun J, Dunn WA Jr, Joy S, Li J, Notterpek L (2003) Emerging role for autophagy in the removal of aggresomes in Schwann cells. J Neurosci 23:10672–10680

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Gabreels-Festen A, van Beersum S, Eshuis L, LeGuern E, Gabreels F, van Engelen B, Mariman E (1999) Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. J Neurol Neurosurg Psychiatry 66:569–574

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K (2002) A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. Neurogenetics 4:93–96

    Article  CAS  PubMed  Google Scholar 

  • Gillespie CS, Sherman DL, Blair GE, Brophy PJ (1994) Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment. Neuron 12:497–508

    Article  CAS  PubMed  Google Scholar 

  • Gillespie CS, Sherman DL, Fleetwood-Walker SM, Cottrell DF, Tait S, Garry EM, Wallace VC, Ure J, Griffiths IR, Smith A, Brophy PJ (2000) Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. Neuron 26:523–531

    Article  CAS  PubMed  Google Scholar 

  • Gooding R, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L (2005) A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. J Med Genet 42:e69

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schupfer F, Medard JJ, Maurer F, Beckmann JS, Senderek J, Palau F, Espinos C, Chrast R (2013) Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. Glia 61:1041–1051

    Article  PubMed  Google Scholar 

  • Grandis M, Vigo T, Passalacqua M, Jain M, Scazzola S, La Padula V, Brucal M, Benvenuto F, Nobbio L, Cadoni A, Mancardi GL, Kamholz J, Shy ME, Schenone A (2008) Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet 17:1877–1889

    Article  CAS  PubMed  Google Scholar 

  • Guilbot A, Williams A, Ravise N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Megarbane A, Claustres M (2001) A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet 10:415–421

    Article  CAS  PubMed  Google Scholar 

  • Gutierrez A, England JD, Sumner AJ, Ferer S, Warner LE, Lupski JR, Garcia CA (2000) Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve 23:182–188

    Article  CAS  PubMed  Google Scholar 

  • Hanemann CO, D’Urso D, Gabreels-Festen AA, Muller HW (2000) Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A. Brain 123(Pt 5):1001–1006

    Article  PubMed  Google Scholar 

  • Hantke J, Chandler D, King R, Wanders RJ, Angelicheva D, Tournev I, McNamara E, Kwa M, Guergueltcheva V, Kaneva R, Baas F, Kalaydjieva L (2009) A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy—Russe (HMSNR). Eur J Hum Genet 17:1606–1614

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Harel T, Lupski JR (2014) Charcot-Marie-Tooth disease and pathways to molecular based therapies. Clin Genet 86:422–431

    Article  CAS  PubMed  Google Scholar 

  • Hayasaka K, Ohnishi A, Takada G, Fukushima Y, Murai Y (1993) Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1. Biochem Biophys Res Commun 194:1317–1322

    Article  CAS  PubMed  Google Scholar 

  • Hayashi M, Abe A, Murakami T, Yamao S, Arai H, Hattori H, Iai M, Watanabe K, Oka N, Chida K, Kishikawa Y, Hayasaka K (2013) Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan. J Hum Genet 58:273–278

    Article  CAS  PubMed  Google Scholar 

  • Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K (2004) SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology 63:577–580

    Article  CAS  PubMed  Google Scholar 

  • Horn M, Baumann R, Pereira JA, Sidiropoulos PN, Somandin C, Welzl H, Stendel C, Luhmann T, Wessig C, Toyka KV, Relvas JB, Senderek J, Suter U (2012) Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. Brain 135:3567–3583

    Article  PubMed  PubMed Central  Google Scholar 

  • Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RH, Reilly MM (2009) The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscul Disord 19:264–269

    Article  PubMed  Google Scholar 

  • Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B (2001) The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res 11:1018–1033

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos S, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V (2003) Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126:590–597

    Article  CAS  PubMed  Google Scholar 

  • Kalaydjieva L, Nikolova A, Turnev I, Petrova J, Hristova A, Ishpekova B, Petkova I, Shmarov A, Stancheva S, Middleton L, Merlini L, Trogu A, Muddle JR, King RH, Thomas PK (1998) Hereditary motor and sensory neuropathy—Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings. Brain 121(Pt 3):399–408

    Article  PubMed  Google Scholar 

  • Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK (2000) N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet 67:47–58

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Katona I, Wu X, Feely SM, Sottile S, Siskind CE, Miller LJ, Shy ME, Li J (2009) PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain 132:1734–1740

    Article  PubMed  PubMed Central  Google Scholar 

  • Katona I, Zhang X, Bai Y, Shy ME, Guo J, Yan Q, Hatfield J, Kupsky WJ, Li J (2011) Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. Eur J Neurosci 33:1401–1410

    Article  PubMed  Google Scholar 

  • Kaya F, Belin S, Bourgeois P, Micaleff J, Blin O, Fontes M (2007) Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. Neuromuscul Disord 17:248–253

    Article  PubMed  Google Scholar 

  • Khajavi M, Shiga K, Wiszniewski W, He F, Shaw CA, Yan J, Wensel TG, Snipes GJ, Lupski JR (2007) Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet 81:438–453

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • King RH, Tournev I, Colomer J, Merlini L, Kalaydjieva L, Thomas PK (1999) Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom. Neuropathol Appl Neurobiol 25:306–312

    Article  CAS  PubMed  Google Scholar 

  • King RH, Chandler D, Lopaticki S, Huang D, Blake J, Muddle JR, Kilpatrick T, Nourallah M, Miyata T, Okuda T, Carter KW, Hunter M, Angelicheva D, Morahan G, Kalaydjieva L (2011) Ndrg1 in development and maintenance of the myelin sheath. Neurobiol Dis 42:368–380

    Article  CAS  PubMed  Google Scholar 

  • Kleopa KA, Abrams CK, Scherer SS (2012) How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease? Brain Res 1487:198–205

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME (2000) Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 123(Pt 7):1516–1527

    Article  PubMed  Google Scholar 

  • Lee SM, Olzmann JA, Chin LS, Li L (2011) Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways. J Cell Sci 124:3319–3331

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lee SM, Chin LS, Li L (2012) Protein misfolding and clearance in demyelinating peripheral neuropathies: therapeutic implications. Commun Integr Biol 5:107–110

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lewis RA, MP MD, Herrmann DN, Hoke A, Clawson LL, Siskind C, Feely SM, Miller LJ, Barohn RJ, Smith P, Luebbe E, Wu X, Shy ME, Muscle Study G (2013) High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. JAMA Neurol 70:981–987

    Article  PubMed  PubMed Central  Google Scholar 

  • Li W, Zhu H, Zhao X, Brancho D, Liang Y, Zou Y, Bennett C, Chow CW (2015) Dysregulated Inflammatory Signaling upon Charcot-Marie-Tooth Type 1C Mutation of SIMPLE Protein. Mol Cell Biol 35:2464–2478

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219–232

    Article  CAS  PubMed  Google Scholar 

  • Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA (2010) Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 362:1181–1191

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Marchesi C, Milani M, Morbin M, Cesani M, Lauria G, Scaioli V, Piccolo G, Fabrizi GM, Cavallaro T, Taroni F, Pareyson D (2010) Four novel cases of periaxin-related neuropathy and review of the literature. Neurology 75:1830–1838

    Article  CAS  PubMed  Google Scholar 

  • Martini R (2014) Neuregulin-1 alleviates Charcot-Marie-Tooth disease in rats. Nat Med 20:984–985

    Article  CAS  PubMed  Google Scholar 

  • Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV (2000) A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 67:37–46

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Meyer zu Horste G, Prukop T, Liebetanz D, Mobius W, Nave KA, Sereda MW (2007) Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. Ann Neurol 61:61–72

    Article  CAS  PubMed  Google Scholar 

  • Murakami T, Garcia CA, Reiter LT, Lupski JR (1996) Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine (Baltimore) 75:233–250

    Article  CAS  Google Scholar 

  • Murakami T, Kutoku Y, Nishimura H, Hayashi M, Abe A, Hayasaka K, Sunada Y (2013) Mild phenotype of Charcot-Marie-Tooth disease type 4B1. J Neurol Sci 334:176–179

    Article  PubMed  Google Scholar 

  • Murakami T, Kutoku Y, Nishimura H, Hayashi M, Abe A, Hayasaka K, Sunada Y (2014) Charcot-Marie-Tooth disease type 4B1 and myelin outfoldings. Peripher Nerv 25:52–58

    Google Scholar 

  • Nakanishi H, Takai Y (2008) Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane. J Cell Mol Med 12:1169–1176

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Nakhro K, Park JM, Hong YB, Park JH, Nam SH, Yoon BR, Yoo JH, Koo H, Jung SC, Kim HL, Kim JY, Choi KG, Choi BO, Chung KW (2013) SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology 81:165–173

    Article  CAS  PubMed  Google Scholar 

  • Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreels-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V (2002) Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 59:1865–1872

    Article  CAS  PubMed  Google Scholar 

  • Nicholson G, Corbett A (1996) Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses. J Neurol Neurosurg Psychiatry 61:43–46

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, Meisler MH (2011) Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG4. Brain 134:1959–1971

    Article  PubMed  PubMed Central  Google Scholar 

  • Niemann A, Ruegg M, La Padula V, Schenone A, Suter U (2005) Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 170:1067–1078

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Niemann A, Wagner KM, Ruegg M, Suter U (2009) GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. Neurobiol Dis 36:509–520

    Article  CAS  PubMed  Google Scholar 

  • Nishimura T, Yoshikawa H, Fujimura H, Sakoda S, Yanagihara T (1996) Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A. Acta Neuropathol 92:454–460

    Article  CAS  PubMed  Google Scholar 

  • Ogata T, Iijima S, Hoshikawa S, Miura T, Yamamoto S, Oda H, Nakamura K, Tanaka S (2004) Opposing extracellular signal-regulated kinase and Akt pathways control Schwann cell myelination. J Neurosci 24:6724–6732

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Okamoto Y, Pehlivan D, Wiszniewski W, Beck CR, Snipes GJ, Lupski JR, Khajavi M (2013) Curcumin facilitates a transitory cellular stress response in Trembler-J mice. Hum Mol Genet 22:4698–4705

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Pareyson D, Marchesi C (2009) Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 8:654–667

    Article  CAS  PubMed  Google Scholar 

  • Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, Ciano C, Sghirlanzoni A (2000) Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology 54:1696–1698

    Article  CAS  PubMed  Google Scholar 

  • Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laura M, Radice D, Calabrese D, Hughes RA, Solari A, Cmt T, Groups C-T (2011) Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol 10:320–328

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X, Robaglia-Schlupp A, Pellissier JF, Fontes M (2004) Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 10:396–401

    Article  CAS  PubMed  Google Scholar 

  • Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1:159–165

    Article  CAS  PubMed  Google Scholar 

  • Patzko A, Bai Y, Saporta MA, Katona I, Wu X, Vizzuso D, Feltri ML, Wang S, Dillon LM, Kamholz J, Kirschner D, Sarkar FH, Wrabetz L, Shy ME (2012) Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain 135:3551–3566

    Article  PubMed  PubMed Central  Google Scholar 

  • Pennuto M, Tinelli E, Malaguti M, Del Carro U, D’Antonio M, Ron D, Quattrini A, Feltri ML, Wrabetz L (2008) Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice. Neuron 57:393–405

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA et al (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1:93–97

    Article  CAS  PubMed  Google Scholar 

  • Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288–297

    Article  CAS  PubMed  Google Scholar 

  • Roberts RC, Peden AA, Buss F, Bright NA, Latouche M, Reilly MM, Kendrick-Jones J, Luzio JP (2010) Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. Hum Mol Genet 19:1009–1018

    Article  CAS  PubMed  Google Scholar 

  • Robinson FL, Niesman IR, Beiswenger KK, Dixon JE (2008) Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. Proc Natl Acad Sci U S A 105:4916–4921

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ryan MC, Shooter EM, Notterpek L (2002) Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations. Neurobiol Dis 10:109–118

    Article  CAS  PubMed  Google Scholar 

  • Sahenk Z, Chen L (1998) Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts. J Neurosci Res 51(2):174–184

    Article  CAS  PubMed  Google Scholar 

  • Sahenk Z, Chen L, Mendell JR (1999) Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol 45:16–24

    Article  CAS  PubMed  Google Scholar 

  • Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME (2011) Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 69:22–33

    Article  PubMed  PubMed Central  Google Scholar 

  • Scherer SS, Deschenes SM, Xu YT, Grinspan JB, Fischbeck KH, Paul DL (1995a) Connexin32 is a myelin-related protein in the PNS and CNS. J Neurosci 15:8281–8294

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Scherer SS, Xu YT, Bannerman PG, Sherman DL, Brophy PJ (1995b) Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development. Development 121:4265–4273

    CAS  PubMed  Google Scholar 

  • Scherer SS, Xu YT, Nelles E, Fischbeck K, Willecke K, Bone LJ (1998) Connexin32-null mice develop demyelinating peripheral neuropathy. Glia 24:8–20

    Article  CAS  PubMed  Google Scholar 

  • Scherer SS, Xu YT, Messing A, Willecke K, Fischbeck KH, Jeng LJ (2005) Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. J Neurosci 25:1550–1559

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, Ramaekers VT, Quasthoff S, Karch D, Schroder JM (1999) X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1). J Neurol Sci 167:90–101

    Article  CAS  PubMed  Google Scholar 

  • Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Zuchner S, De Jonghe P, Rudnik-Schoneborn S, Zerres K, Schroder JM (2003a) Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 126:642–649

    Article  PubMed  Google Scholar 

  • Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Muller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schoneborn S, Zuchner S, Michael Schroder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Buttner R, Nelis E, Zerres K (2003b) Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet 73:1106–1119

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Sereda MW, Meyer zu Horste G, Suter U, Uzma N, Nave KA (2003) Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 9:1533–1537

    Article  CAS  PubMed  Google Scholar 

  • Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vilchez JJ (2003) Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 126:2023–2033

    Article  PubMed  Google Scholar 

  • Sevilla T, Martinez-Rubio D, Marquez C, Paradas C, Colomer J, Jaijo T, Millan JM, Palau F, Espinos C (2013) Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin Genet 83:565–570

    Article  CAS  PubMed  Google Scholar 

  • Sherman DL, Fabrizi C, Gillespie CS, Brophy PJ (2001) Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron 30:677–687

    Article  CAS  PubMed  Google Scholar 

  • Sherman DL, Wu LM, Grove M, Gillespie CS, Brophy PJ (2012) Drp2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth. J Neurosci 32:9419–9428

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Shy ME (2006) Peripheral neuropathies caused by mutations in the myelin protein zero. J Neurol Sci 242:55–66

    Article  CAS  PubMed  Google Scholar 

  • Shy ME, Jani A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J (2004) Phenotypic clustering in MPZ mutations. Brain 127:371–384

    Article  PubMed  Google Scholar 

  • Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF (2007) CMT1X phenotypes represent loss of GJB1 gene function. Neurology 68:849–855

    Article  CAS  PubMed  Google Scholar 

  • Sivera R, Espinos C, Vilchez JJ, Mas F, Martinez-Rubio D, Chumillas MJ, Mayordomo F, Muelas N, Bataller L, Palau F, Sevilla T (2010) Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. J Peripher Nerv Syst 15:334–344

    Article  CAS  PubMed  Google Scholar 

  • Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Kruttgen A, Rudnik-Schoneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J (2007) Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet 81:158–164

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF (2003) Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 60:22–26

    Article  CAS  PubMed  Google Scholar 

  • Tabaraud F, Lagrange E, Sindou P, Vandenberghe A, Levy N, Vallat JM (1999) Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. Muscle Nerve 22:1442–1447

    Article  CAS  PubMed  Google Scholar 

  • Taylor RA, Simon EM, Marks HG, Scherer SS (2003) The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. Neurology 61:1475–1478

    Article  PubMed  Google Scholar 

  • Thomas PK, Kalaydjieva L, Youl B, Rogers T, Angelicheva D, King RH, Guergueltcheva V, Colomer J, Lupu C, Corches A, Popa G, Merlini L, Shmarov A, Muddle JR, Nourallah M, Tournev I (2001) Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies. Ann Neurol 50:452–457

    Article  CAS  PubMed  Google Scholar 

  • Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Lofgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C (1999) Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 52:1827–1832

    Article  CAS  PubMed  Google Scholar 

  • Topilko P, Schneider-Maunoury S, Levi G, Baron-Van Evercooren A, Chennoufi AB, Seitanidou T, Babinet C, Charnay P (1994) Krox-20 controls myelination in the peripheral nervous system. Nature 371:796–799

    Article  CAS  PubMed  Google Scholar 

  • Vaccari I, Carbone A, Previtali SC, Mironova YA, Alberizzi V, Noseda R, Rivellini C, Bianchi F, Del Carro U, D’Antonio M, Lenk GM, Wrabetz L, Giger RJ, Meisler MH, Bolino A (2015) Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy. Hum Mol Genet 24:383–396

    Article  CAS  PubMed  Google Scholar 

  • Vandenberghe N, Upadhyaya M, Gatignol A, Boutrand L, Boucherat M, Chazot G, Vandenberghe A, Latour P (2002) Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies. J Med Genet 39:e81

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Vavlitou N, Sargiannidou I, Markoullis K, Kyriacou K, Scherer SS, Kleopa KA (2010) Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy. J Neuropathol Exp Neurol 69:945–958

    Article  CAS  PubMed  Google Scholar 

  • Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR (1998) Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 18:382–384

    Article  CAS  PubMed  Google Scholar 

  • Warner LE, Svaren J, Milbrandt J, Lupski JR (1999) Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet 8:1245–1251

    Article  CAS  PubMed  Google Scholar 

  • Wrabetz L, D’Antonio M, Pennuto M, Dati G, Tinelli E, Fratta P, Previtali S, Imperiale D, Zielasek J, Toyka K, Avila RL, Kirschner DA, Messing A, Feltri ML, Quattrini A (2006) Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice. J Neurosci 26:2358–2368

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Yanagisawa H, Schluterman MK, Brekken RA (2009) Fibulin-5, an integrin-binding matricellular protein: its function in development and disease. J Cell Commun Signal 3:337–347

    Article  PubMed  PubMed Central  Google Scholar 

  • Yoshihara T, Yamamoto M, Hattori N, Misu K, Mori K, Koike H, Sobue G (2002) Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. J Peripher Nerv Syst 7:221–224

    Article  CAS  PubMed  Google Scholar 

  • Zhang X, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J (2008) Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain 131:1990–2001

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

This work is supported by Research Project Grants from Kawasaki Medical School [29-046] and KAKENHI [16K09686]. We thank Mr. Masatomo Yamada (Kawasaki Medical School) for preparing the tables.

Author information

Authors and Affiliations

  1. Department of Neurology, Kawasaki Medical School, Kurashiki, Okayama, Japan

    Tatsufumi Murakami & Yoshihide Sunada

Authors
  1. Tatsufumi Murakami
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Yoshihide Sunada
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Tatsufumi Murakami .

Editor information

Editors and Affiliations

  1. Diabetic Neuropathy Project, Department of Sensory and Motor Systems, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan

    Kazunori Sango

  2. Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Science, Hachioji, Tokyo, Japan

    Junji Yamauchi

  3. Department of Rehabilitation for the Movement Functions, Research Institute, National Rehabilitation Center, Tokorozawa, Saitama, Japan

    Toru Ogata

  4. Department of Neuroscience, Cell Biology, and Physiology, Boonshoft School of Medicine, Wright State University, Dayton, OH, USA

    Keiichiro Susuki

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Nature Singapore Pte Ltd.

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Murakami, T., Sunada, Y. (2019). Schwann Cell and the Pathogenesis of Charcot–Marie–Tooth Disease. In: Sango, K., Yamauchi, J., Ogata, T., Susuki, K. (eds) Myelin. Advances in Experimental Medicine and Biology, vol 1190. Springer, Singapore. https://doi.org/10.1007/978-981-32-9636-7_19

Download citation

Publish with us

Policies and ethics

Search

Navigation