Multisystem manifestations of mitochondrial disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
http://link.springer.com/content/pdf/10.1007/s00415-009-5028-3.pdf
Reference136 articles.
1. Alcolado JC, Laji K, Gill-Randall R (2002) Maternal transmission of diabetes. Diabet Med 19:89–98
2. Alexander C, Votruba M, Pesch UEA, Thiselton DL, Mayer S, Moore A, Rodriquez M, Kellner U, Leo-Kottler B, Auburger G, Bhattcharya SS, Wissinger B (2000) OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 26:211–215
3. Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller D (1999) Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet 8:743–749
4. Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J, Sl DiMauro (1999) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 341:1037–1044
5. Ankel-Simons F, Cummins JM (1996) Misconceptions about mitochondria and mammalian fertilization: implications for theories on human evolution. Proc Natl Acad Sci USA 93:13859–13863
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