Near identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium and hair follicles in twins with optic atrophy, ptosis and intractable epilepsy

IMPORTANCE: Mitochondrial DNA (mtDNA) disorders have emerged as major cause of inherited neurological disease. Despite being well recognized for over two decades, the clinical presentation continues to broaden. The phenotypic heterogeneity is partly due to different percentage levels of mutant mtDNA...

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Udgivet i:JAMA Neurol
Main Authors: Spyropoulos, Achilles, Manford, Mark, Horvath, Rita, Alston, Charlotte L, Yu-Wai-Man, Patrick, He, Langping, Taylor, Robert W., Chinnery, Patrick F.
Format: Artigo
Sprog:Inglês
Udgivet: 2013
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6551219/
https://ncbi.nlm.nih.gov/pubmed/24126373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2013.4111
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