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Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

The Wolfram syndrome (MIM 222300) is a disease of unknown origin consisting of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Here we report on a generalized deficiency of the mitochondrial respiratory enzyme activities in skeletal muscle and lymphocyte homogenate of a girl suff...

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Udgivet i:J Clin Invest
Principais autores: Rötig, A, Cormier, V, Chatelain, P, Francois, R, Saudubray, J M, Rustin, P, Munnich, A
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1993
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288064/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8383698/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116267
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