Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.

Multiple deletions of the mitochondrial genome were found in a family in which the proband had ataxia and ketoacidotic comas. A progressive multiorgan involvement appeared in the course of the disease, and histopathological investigation demonstrated mitochondrial myopathy features with ragged red f...

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Hlavní autoři: Cormier, V, Rotig, A, Tardieu, M, Colonna, M, Saudubray, J M, Munnich, A
Médium: Artigo
Jazyk:Inglês
Vydáno: 1991
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682949/
https://ncbi.nlm.nih.gov/pubmed/2014791
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