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A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

A variable combination of developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy occurred in four members of a family and was maternally transmitted. There was no histochemical evidence of mitochondrial myopathy. Blood and m...

Полное описание

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Библиографические подробности
Главные авторы: Holt, I J, Harding, A E, Petty, R K, Morgan-Hughes, J A
Формат: Artigo
Язык:Inglês
Опубликовано: 1990
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683641/
https://ncbi.nlm.nih.gov/pubmed/2137962
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