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Article

Wolfram syndrome: a mitochondrial-mediated disorder?

Lancet (London, England) - 4 Sept 1993

Bu X, Rotter J I

Abstract excerpt

Mitochondrial DNA mutations cause several human diseases, (eg, Leber's hereditary optic neuropathy). Wolfram syndrome (characterised by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) also has, in some cases, a mitochondrial origin. The disease, often familial, has been well documented as an autosomal recessive disorder, and most of the clinical phenotypes are consistent with an ATP supply...

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PMID: 8102726
DOI: 10.1016/0140-6736(93)91416-j

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