Article
Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.
Neuromuscular disorders : NMD - 1 Feb 2003
Siciliano G, Tessa A, Petrini S, Mancuso M, Bruno C, Grieco G S, Malandrini A, DeFlorio L, Martini B, Federico A, Nappi G, Santorelli F M, Murri L
Abstract excerpt
The authors report on a family with dominantly inherited progressive external ophthalmoplegia and a diagnostic and statistical manual (fourth revised edition) diagnosis of bipolar psychiatric disorder in several members. Skeletal muscle biopsy from the proposita showed decreased cytochrome c oxidase staining, several ragged-red fibers, and multiple mtDNA deletions. The authors identified a missense mutation...
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