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Spinal muscular atrophy and mitochondrial DNA depletion

Response to Berber et al. (2003) Acta Neuropathol 105:245–251

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References

  1. Arnaudo E, Dalakas M, Shanske S, Moraes CT, DiMauro S, Schon EA (1991) Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy. Lancet 337:508–510

    CAS  PubMed  Google Scholar 

  2. Berger A, Mayr JA, Meierhofer D, Fotschl U, Bittner R, Budka H, Grethen C, Huemer M, Kofler B, Sperl W (2003) Severe depletion of mitochondrial DNA in spinal muscular atrophy. Acta Neuropathol 105:245–251

    CAS  PubMed  Google Scholar 

  3. Mancuso M, Salviati L, Sacconi S, Otaegui D, Camano P, Marina A, Bacman S, Moraes CT, Carlo JR, Garcia M, Garcia-Alvarez M, Monzon L, Naini AB, Hirano M, Bonilla E, Taratuto AL, DiMauro S, Vu TH (2002) Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neurology 59:1197–1202

    CAS  PubMed  Google Scholar 

  4. Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N (2001) The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 29:337–341

    CAS  PubMed  Google Scholar 

  5. Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S (1991) mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 48:492–501

    CAS  PubMed  Google Scholar 

  6. Nishino I, Spinazzola A, Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689–692

    Article  CAS  PubMed  Google Scholar 

  7. Pons R, Andreetta F, Wang CH, Vu TH, Bonilla E, DiMauro S, De Vivo DC (1996) Mitochondrial myopathy simulating spinal muscular atrophy. Pediatr Neurol 15:153–158

    Article  PubMed  Google Scholar 

  8. Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O (2001) Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 29:342–344

    Article  CAS  PubMed  Google Scholar 

  9. Vu TH, Sciacco M, Tanji K, Nichter C, Bonilla E, Chatkupt S, Maertens P, Shanske S, Mendell J, Koenigsberger MR, Sharer L, Schon EA, DiMauro S, DeVivo DC (1998) Clinical manifestations of mitochondrial DNA depletion. Neurology 50:1783–1790

    CAS  PubMed  Google Scholar 

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Correspondence to S. DiMauro.

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Mancuso, M., Filosto, M., Hirano, M. et al. Spinal muscular atrophy and mitochondrial DNA depletion. Acta Neuropathol 105, 621–622 (2003). https://doi.org/10.1007/s00401-003-0699-9

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