Article
[Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Apropos a case].
Medicina clinica - 30 Jan 1999
Biarnés J, Barrientos A, Ricart W, Nunes V, Fernández-Castañer M, Soler J
Abstract excerpt
The mitochondrial A3243G mutation of the tRNA(Leu) has been described in pedigrees with maternally inherited diabetes mellitus and deafness. Ten diabetic patients with sensorineural deafness were studied. Polymerase chain reaction and enzyme restriction analysis with Apa I were performed. The mutation was found in heteroplasmy in only one patient (1/10). She was a 43-years-old woman with maternally inherited...
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