Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

The most common clinical phenotype caused by a mtDNA mutation in complex I of the mitochondrial respiratory chain is Leber hereditary optic neuropathy. We report a family with a novel maternally inherited homoplasmic mtDNA m.4087A>G mutation in the ND1 gene (MT-ND1) associated with isolated myopa...

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Udgivet i:JIMD Rep
Main Authors: Rafiq, Jabin, Duno, Morten, Østergaard, Elsebet, Ravn, Kirstine, Vissing, Christoffer R., Wibrand, Flemming, Vissing, John
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5059218/
https://ncbi.nlm.nih.gov/pubmed/26108648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_459
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