Zusammenfassung
Die Muskeldystrophien sind eine heterogene Gruppe genetisch determinierter Erkrankungen mit progressivem Skelettmuskelschwund, bei denen entsprechende Veränderungen am zentralen oder peripheren Nervensystem fehlen.
Preview
Unable to display preview. Download preview PDF.
Literatur
- Amato A A, Shebert R T (1998) Inclusion body myositis in twins (see comments). Neurology 51: 598–600PubMedGoogle Scholar
- Askanas V, Engel W K (1998) Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis. Curr Opin Rheumatol 10: 530–542PubMedCrossRefGoogle Scholar
- Banker B Q (1994) Congenital deformities. In: Engel A G, Franzini-Armstrong C (eds) Myology, vol 2. McGraw-Hill, New York, pp 1905–1937Google Scholar
- Banwell B L, Rüssel J, Fukudome T, Shen XM, Stilling G, Engel AG (1999) Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol 58: 832–846PubMedCrossRefGoogle Scholar
- Bashir R, Britton S, Strachan T et al. (1998) A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20: 37–42PubMedCrossRefGoogle Scholar
- Becker P E, Kiener F (1972) Eine neue X-chromosomale Muskeldystrophie. Arch Psychiat Z Neur 193: 427–448CrossRefGoogle Scholar
- Belpaire-Dethiou M C, Saito K, Fukuyama Y et al. (1999) Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient. Neuromuse Disord 9: 251–256CrossRefGoogle Scholar
- Betz R C, Schoser B G, Kasper D, Ricker K, Ramirez A, Stein V, Torbergsen T, Lee Y A, Nöthen M M, Wienker T F, Malin J P, Propping P, Reis A, Mortier W, Jentsch T J, Vorgerd M, Kubisch C (2001) Mutations in CAV3 cause mechanical hyper irritability of skeletal muscle in rippling muscle disease. Nat Genet 28: 218–219PubMedCrossRefGoogle Scholar
- Biemond A (1955) Moypathia distalis juvenilis hereditaria. Acta Psychiatr Scand 30: 25CrossRefGoogle Scholar
- Blumen S C, Brais B, Korczyn A D et al. (1999) Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann Neurol 46: 115–118PubMedCrossRefGoogle Scholar
- Bonne G, Di Barletta M R, Varnous S et al. (1999a) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21: 285–288PubMedCrossRefGoogle Scholar
- Bonne G, Mercuri E, Muchir A et al. (2000) Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 48: 170–180PubMedCrossRefGoogle Scholar
- Borg K, Solders G, Borg J, Edstrom L, Kristensson K (1989) Neurogenic involvement in distal myopathy (Welander). Histochemical and morphological observations on muscle and nerve biopsies. J Neurol Sci 91: 53–70Google Scholar
- Bornemann A, Anderson L V (2000) Diagnostic protein expression in human muscle biopsies. Brain Pathol 10: 193–214PubMedCrossRefGoogle Scholar
- Bornemann A, Petersen MB, Schmalbruch H (1996) Fatal congenital myopathy with actin filament deposits. Acta Neuropathol (Berl) 92: 104–108CrossRefGoogle Scholar
- Brais B, Xie Y G, Sanson M et al. (1995) The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14qll.2–ql3. Hum Mol Genet 4: 429–434PubMedCrossRefGoogle Scholar
- Brais B, Bouchard JP, Xie YG et al. (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 18: 164–167 (published erratum in Nat Genet 19: 404)Google Scholar
- Chadani Y, Kondoh T, Kamimura N et al. (2000) Walker-Warburg syndrome is genetically distinct from fukuyama type congenital muscular dystrophy. J Neurol Sci 177: 150–153PubMedCrossRefGoogle Scholar
- Clemens P R, Ward P A, Caskey C T, Bulman D E, Fenwick R G (1992) Premature chain termination mutation causing Duchenne muscular dystrophy. Neurology 42: 1775–1782PubMedGoogle Scholar
- Cruse J P, Edwards D A, Smith J F, Wyllie J H (1979) The pathology of a cricopharyngeal dysphagia. Histopathology 3: 223–232PubMedCrossRefGoogle Scholar
- Dalakas M C, Park K Y, Semino-Mora C, Lee H S, Sivakumar K, Goldfarb L G (2000) Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 342: 770–780PubMedCrossRefGoogle Scholar
- Darin N, Kyllerman M, Wahlstrom J, Martinsson T, Oldfors A (1998) Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. Ann Neurol 44: 242–248PubMedCrossRefGoogle Scholar
- De Bleecker J L, Engel A G, Ertl B B (1996) Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immuno- cytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol 55: 563–577Google Scholar
- Driss A, Amouri R, Ben Hamida C, Souilem S, Gouider-Khouja N, Ben Hamida M, Hentati F (2000) A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19ql3.3. Neuromusc Disord 10: 240–246Google Scholar
- Dubowitz V, Crome L (1969) The central nervous system in Duchenne muscular dystrophy. Brain 92: 805–808PubMedCrossRefGoogle Scholar
- Duclos F, Broux O, Bourg N et al. (1998) Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. Neuromusc Disord 8: 30–38PubMedCrossRefGoogle Scholar
- Duggan D J, Hoffman E P (1996) Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex. Neuromusc Disord 6: 475–482PubMedCrossRefGoogle Scholar
- Duggan D J, Fanin M, Pegoraro E, Angelini C, Hoffman EP (1996) alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations. J Neurol Sci 140: 30–39Google Scholar
- Edstrom L (1975) Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander). J Neurol Sci 26: 147–157PubMedCrossRefGoogle Scholar
- Edstrom L, Thornell L E, Eriksson A (1980) A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. J Neurol Sci 47: 171–190PubMedCrossRefGoogle Scholar
- Eisenberg I, Thiel C, Levi T et al. (1999) Fine-structure mapping of the hereditary inclusion body myopathy locus. Genomics 55: 43–48PubMedCrossRefGoogle Scholar
- Fanin M, Danieli G A, Vitiello L, Senter L, Angelini C (1992) Prevalence of dystrophin-positive fibers in 85 Duchenne muscular dystrophy patients. Neuromuscul Disord 2: 41–45PubMedCrossRefGoogle Scholar
- Feit H, Silbergleit A, Schneider L B et al. (1998) Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. Am J Hum Genet 63: 1732–1742PubMedCrossRefGoogle Scholar
- Fidzianska A, Toniolo D, Hausmanowa-Petrusewicz I (1998) Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy ( EDMD ). J Neurol Sci 159: 88–93Google Scholar
- Frankel K A, Rosser R J (1976) The pathology of the heart in progressive muscular dystrophy: epimyocardial fibrosis. Hum Pathol 7: 375–386PubMedCrossRefGoogle Scholar
- Funakoshi M, Tsuchiya Y, Arahata K (1999) Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 9: 108–114PubMedCrossRefGoogle Scholar
- Gache Y, Chavanas S, Lacour J P, Wiche G, Owaribe K, Meneguzzi G, Ortonne J P (1996) Defective expression of plectin/HDl in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest 97: 2289–2298PubMedCrossRefGoogle Scholar
- Gallanti A, Prelle A, Moggio M, Ciscato P, Checcarelli N, Sciacco M, Comini A, Scarlato G (1992) Desmin and vimentin as markers of regeneration in muscle diseases. Acta Neuropathol 85: 88–92PubMedCrossRefGoogle Scholar
- Galluzzi G, Deidda G, Cacurri S et al. (1999) Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease. Neuromusc Disord 9: 190–198PubMedCrossRefGoogle Scholar
- Goebel H H (1997) Desmin-related myopathies. Curr Opin Neurol 10: 426–429PubMedCrossRefGoogle Scholar
- Goebel H H, Muller J, Gillen H W, Merritt A D (1978) Autosomal dominant “spheroid body myopathy”. Muscle Nerve 1: 14–26PubMedCrossRefGoogle Scholar
- Goebel H H, D’Agostino A N, Wilson J et al. (1997) Spheroid body myopathy revisited. Muscle Nerve 20: 1127–1136PubMedCrossRefGoogle Scholar
- Goldfarb L G, Park K Y, Cervenakova L et al. (1998) Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 19: 402–403PubMedCrossRefGoogle Scholar
- Goto I, Hayakawa T, Miyoshi T, Ino K, Kusunoki R (1973) Case of oculopharnygodistal myopathy with cardiopathy. Rinsho Shinkeigaku 13: 529–536PubMedGoogle Scholar
- Haravuori H, Makela-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L (1998) Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet 62: 620–626PubMedCrossRefGoogle Scholar
- Hauser M A, Horrigan S K, Salmikangas P, Torian U M, Viles K D, Dancel R, Tim R W, Taivainen A, Bartoloni L, Gilchrist J M, Stajich J M, Gaskell P C, Gilbert J R, Vance J M, Pericak-Vance M A, Carpen O, Westbrook C A, Speer M C (2000) Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 9: 2141–2147PubMedCrossRefGoogle Scholar
- Hermanns B, Molnar M, Schröder JM (2000) Peripheral neuropathy associated with hereditary and sporadic inclusion body myositis: confirmation by electron microscopy and morphometry. J Neurol Sci 179: 92–102PubMedCrossRefGoogle Scholar
- Hijikata T, Murakami T, Imamura M, Fujimaki N, Ishikawa H (1999) Plectin is a linker of intermediate filaments to Z-discs in skeletal muscle fibers. J Cell Sci 112: 867–876PubMedGoogle Scholar
- Hoffman E P, Brown R H Jr, Kunkel L M (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51: 919–928PubMedCrossRefGoogle Scholar
- Ikeuchi T, Asaka T, Saito M et al. (1997) Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 41: 432–437PubMedCrossRefGoogle Scholar
- Ioannou P, Christopoulos G, Panayides K, Kleanthous M, Middleton L (1992) Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis. Neurology 42: 1783–1790PubMedGoogle Scholar
- Jeanpierre M, Carrie A, Piccolo F et al. (1996) From adhalinopathies to alpha-sarcoglycanopathies: an overview. Neuromusc Disord 6: 463–465sPubMedCrossRefGoogle Scholar
- Jennekens F G, ten Kate L P, de Visser M, Wintzen A R (1991) Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy (see comments). Neuromusc Disord 1: 389–391Google Scholar
- Jobsis G J, Bolhuis P A, Boers J M, Baas F, Wolterman R A, Hensels G W, de Visser M (1996a) Genetic localization of Bethlem myopathy. Neurology 46: 779–782Google Scholar
- Jobsis G J, Keizers H, Vreijling J P, de Visser M et al. (1996b) Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 14: 113–115PubMedCrossRefGoogle Scholar
- Kalimo H, Savontaus M L, Lang H et al. (1988) X-linked myopathy with excessive autophagy: a new hereditary muscle disease. Ann Neurol 23: 258–265PubMedCrossRefGoogle Scholar
- Koenig M, Hoffman E P, Bertelson C J, Monaco A P, Feener C, Kunkel L M (1987) Complete cloning of the Duchenne muscular dystrophy ( DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509–517Google Scholar
- Koenig M, Monaco A P, Kunkel L M (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53: 219–226PubMedCrossRefGoogle Scholar
- Kuhn E, Schröder J M (1981) A new type of distal myopathy in two brothers. J Neurol 226: 181–185PubMedCrossRefGoogle Scholar
- Kumada S, Tsuchiya K, Takahashi M et al. (2000) The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy. Acta Neuropathol (Berl) 99: 209–213CrossRefGoogle Scholar
- Leyten Q H, ter Laak H J, Gabreels F J, Renier W O, Renkawek K, Sengers R C (1993) Congenital muscular dystrophy. A study on the variability of morphological changes and dystrophin distribution in muscle biopsies. Acta Neuropathol 86: 386–392Google Scholar
- Liu J, Aoki M, Ilia I et al. (1998) Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20: 31–36PubMedCrossRefGoogle Scholar
- Mastaglia F L, Walton S J (1992) Skeletal muscle pathology, 2nd edn. Churchill Livingstone, EdinburghGoogle Scholar
- Matsubara S, Mizuno Y, Kitaguchi T, Isozaki E, Miyamoto K, Hirai S (1999) Fukuyama-type congenital muscular dystrophy: close relation between changes in the muscle basal lamina and plasma membrane. Neuromusc Disord 9: 388–398PubMedCrossRefGoogle Scholar
- Miller G (1992) Diagnostic criteria for Duchenne and Becker muscular dystrophy (letter; comment). Neuromusc Disord 2: 225PubMedCrossRefGoogle Scholar
- Minetti C, Tanji K, Bonilla E (1992) Immunologic study of vinculin in Duchenne muscular dystrophy. Neurology 42: 1751–1754PubMedGoogle Scholar
- Mizusawa H, Kurisaki H, Takatsu M, Inoue K, Mannen T, Toyokura Y, Nakanishi T (1987a) Rimmed vacuolar distal myopathy: a clinical, electrophysiological, histopathological and computed tomographic study of seven cases. J Neurol 234: 129–136PubMedCrossRefGoogle Scholar
- Mizusawa H, Kurisaki H, Takatsu M, Inoue K, Mannen T, Toyokura Y, Nakanishi T (1987b) Rimmed vacuolar distal myopathy. An ultrastructural study. J Neurol 234: 137–145Google Scholar
- Mokri B, Engel A G (1975) Duchenne dystrophy: electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber. Neurology 25: 1111–1120PubMedGoogle Scholar
- Moreira E S, Wiltshire T J, Faulkner G et al. (2000) Limbgirdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 24: 163–166PubMedCrossRefGoogle Scholar
- Muchir A, Bonne G, van der Kooi A J et al. (2000) Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9: 1453–1459PubMedCrossRefGoogle Scholar
- Munoz-Marmol A M, Strasser G, Isamat M et al. (1998) A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci USA 95: 11312–11317PubMedCrossRefGoogle Scholar
- Nicholson L V, Johnson M A, Gardner-Medwin D, Bhattacharya S, Harris J B (1990) Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol 80: 239–250PubMedCrossRefGoogle Scholar
- Nicholson L V, Johnson M A, Bushby K M, Gardner-Medwin D (1993) Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy. Arch Dis Child 68: 632–636PubMedCrossRefGoogle Scholar
- Nigro V, de Sa Moreira E, Piluso G et al. (1996) Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 14: 195–198PubMedCrossRefGoogle Scholar
- Ognibene A, Sabatelli P, Petrini S et al. (1999) Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. Muscle Nerve 22: 864–869PubMedCrossRefGoogle Scholar
- Orrel R W, Griggs R C (1999) Muscular dystrophies: Overwiew of clinical and molecular approaches. In Schapira AHV, Griggs R C (eds) Muscle diseases, vol 24. Butterworths-Heinemann, Oxford, pp 59–82Google Scholar
- Orrell R W, Tawil R, Forrester J, Kissel J T, Mendell J R, Figlewicz D A (1999) Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology 52: 1822–1826PubMedGoogle Scholar
- Passos-Bueno M R, Moreira E S, Vainzof M, Marie S K, Zatz M (1996) Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33–34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet 5: 815–820PubMedCrossRefGoogle Scholar
- Raffaele Di Barletta M et al. (2000) Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 66: 1407–1412CrossRefGoogle Scholar
- Rapaport D, Passos-Bueno M R, Takata R I et al. (1992) A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retar-dation. Neuromuscul Disord 2: 117–120PubMedCrossRefGoogle Scholar
- Rappaport L, Contard F, Samuel J L, Delcayre C, Marotte F, Tome F, Fardeau M (1988) Storage of phosphorylated desmin in a familial myopathy. FEBS Lett 231: 421–425PubMedCrossRefGoogle Scholar
- Saito Y, Murayama S, Kawai M, Nakano I (1999) Breached cerebral glia limitans-basal lamina complex in Fukuyama-type congenital muscular dystrophy. Acta Neuropathol 98: 330–336PubMedCrossRefGoogle Scholar
- Saito A, Higuchi I, Nakagawa M et al. (2000) An overexpression of fibroblast growth factor (FGF) and FGF receptor 4 in a severe clinical phenotype of facioscapulohumeral muscular dystrophy. Muscle Nerve 23: 490–497PubMedCrossRefGoogle Scholar
- Saviranta P, Lindlof M, Lehesjoki A E et al. (1988) Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. Am J Hum Genet 42: 84–88PubMedGoogle Scholar
- Schröder J M (1982) Pathologie der Muskulatur. Springer, Berlin Heidelberg New YorkGoogle Scholar
- Schröder J M, Sommer C, Schmidt B (1990) Desmin and actin associated with cytoplasmic bodies in skeletal muscle fibers: immunocytochemical and fine structural studies, with a note on unusual 18-to 20-nm filaments. Acta Neuropathol 80: 406–414PubMedCrossRefGoogle Scholar
- Schröder J M, Krabbe B, Weis J (1995) Oculopharyngeal muscular dystrophy: clinical and morphological follow-up study reveals mitochondrial alterations and unique nuclear inclusions in a severe autosomal recessive type. Neuropathol Appl Neurobiol 21: 68–73PubMedCrossRefGoogle Scholar
- Speer M C, Tandan R, Rao P N et al. (1996) Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Hum Mol Genet 5: 1043–1046PubMedCrossRefGoogle Scholar
- Squarzoni S, Sabatelli P, Ognibene A et al. (1998) Immunocytochemical detection of emerin within the nuclear matrix. Neuromusc Disord 8: 338–444PubMedCrossRefGoogle Scholar
- Sunohara N, Nonaka I, Kamei N, Satoyoshi E (1989) Distal myopathy with rimmed vacuole formation. A follow-up study. Brain 112: 65–83Google Scholar
- Swash M, Schwarz M S, Thompson A, Cox E, Gray A (1988) Distal myopathy with focal granular degenerative change in vacuolated type 2 fibers. Clin Neuropathol 7: 249–253PubMedGoogle Scholar
- Taylor J, Sewry C A, Dubowitz V, Muntoni F (1998) Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression. Neurology 51: 1116–1120PubMedGoogle Scholar
- Thornell L E, Edstrom L, Eriksson A, Henriksson K G, Angqvist K A (1980) The distribution of intermediate filament protein (skeletin) in normal and diseased human skeletal muscle — an immunohistochemical and electron-microscopic study. J Neurol Sci 47: 153–170PubMedCrossRefGoogle Scholar
- Thornell L E, Edstrom L, Billeter R, Butler-Browne G S, Kjorell U, Whalen R G (1984) Muscle fibre type composition in distal myopathy (Welander). An analysis with enzyme-and immuno-histochemical, gelelectrophoretic and ultra-structural techniques. J Neurol Sci 65: 269–292Google Scholar
- Tomé F M, Fardeau M (1980) Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol 49: 85–87PubMedCrossRefGoogle Scholar
- Udd B, Partanen J, Halonen P et al. (1993) Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. Arch Neurol 50: 604–608PubMedGoogle Scholar
- Udd B, Haravuori H, Kalimo H et al. (1998) Tibial muscular dystrophy - from clinical description to linkage on chromosome 2q31. Neuromusc Disord 8: 327–332PubMedCrossRefGoogle Scholar
- Vainzof M, Passos-Bueno M R, Canovas M et al. (1996) The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet 5: 1963–1969PubMedCrossRefGoogle Scholar
- Vicart P, Caron A, Guicheney P et al. (1998) A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 20: 92–95PubMedCrossRefGoogle Scholar
- Vielhaber S, Jakubiczka S, Schröder J M, Sailer M, Feistner H, Heinze H J, Wieacker P, Bettecken T (2002) Facioscapulohumeral muscular dystrophy (FSHD) with EcoRl/Blnl fragment size of more than 32 kb. Muscle Nerve (in Druck)Google Scholar
- Wang J F, Forst J, Schröder S, Schröder J M (1999) Correlation of muscle fiber type measurements with clinical and molecular genetic data in Duchenne muscular dystrophy. Neuromusc Disord 9: 150–158PubMedCrossRefGoogle Scholar
- Weiler T, Greenberg C R, Zelinski T et al. (1998) A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31–q33: evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet 63: 140–147PubMedCrossRefGoogle Scholar
- Welander L (1951) Myopathia distalis tarda hereditaria. 249 examined cases in 72 pedigrees. Acta Med Scand 141 (Suppl): 265Google Scholar
- Wilson K L (2000) The nuclear envelope, muscular dystrophy, and gene expression. Trends Cell Biol 10: 125–129PubMedCrossRefGoogle Scholar
- Xie Y G, Rochefort D, Brais B et al. (1998) Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14qll.2-ql3. Genomics 52: 201–214PubMedCrossRefGoogle Scholar
- Yamanouchi Y, Arikawa E, Arahata K, Ozawa E, Nonaka I (1995) Limb-girdle muscular dystrophy: clinical and pathologic réévaluation. J Neurol Sci 129: 15–20PubMedCrossRefGoogle Scholar
- Yates J R, Bagshaw J, Aksmanovic V M et al. (1999) Genotype- phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. Neuromusc Disord 9: 159–165PubMedCrossRefGoogle Scholar
- Zatz M, Matsumura K, Vainzof M, Passos-Bueno M R, Pavanello R C, Marie S K, Campbell K P (1994) Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy. J Neurol Sci 123: 122–128PubMedCrossRefGoogle Scholar
Copyright information
© Springer-Verlag Berlin Heidelberg 2002