Article
Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.
Diabetes care - 1 Nov 1997
Vialettes B H, Paquis-Flucklinger V, Pelissier J F, Bendahan D, Narbonne H, Silvestre-Aillaud P, Montfort M F, Righini-Chossegros M, Pouget J, Cozzone P J, Desnuelle C
Abstract excerpt
OBJECTIVE: To analyze the clinical and biochemical features of a recently described point mutation of mitochondrial DNA associated with diabetes. This mutation, characterized by a T14709C transition of a highly conserved nucleotide in the region coding for the glutamic acid tRNA, is heteroplasmic. RESEARCH DESIGN AND METHODS: The phenotypic expression in the insulin-requiring diabetic proband from the pedigree...
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