Article
HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness.
Diabetic medicine : a journal of the British Diabetic Association - 1 Dec 2000
van Essen E H, Roep B O, 't Hart L M, Jansen J J, Van den Ouweland J M, Lemkes H H, Maassen J A
Abstract excerpt
AIM: Maternally inherited diabetes and deafness (MIDD) associates with a mutation at position 3243 in mitochondrial DNA. Phenotypic expression of MIDD includes Type 1-like and Type 2-like diabetes. This study examined whether HLA-DQ phenotype and the degree of heteroplasmy in leucocyte and oral mucosa DNA influence clinical expression of the 3242 mutation. METHODS: In a group of 20 unrelated probands with MIDD,...
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