Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.
Maternally inherited diabetes and deafness (MIDD) affects up to 1% of patients with diabetes but is often unrecognized by physicians. It is important to make an accurate genetic diagnosis, as there are implications for clinical investigation, diagnosis, management and genetic counselling. This review summarizes the range of clinical phenotypes associated with MIDD; outlines the advances in genetic diagnosis and pathogenesis of MIDD; summarizes the published prevalence data and provides guidance on the clinical management of these patients and their families.
Murphy
R
R
Institute of Biomedical Sciences, Peninsula Medical School, Exeter, UK. rinkis@adhb.govt.nz
Turnbull
D M
DM
Walker
M
M
Hattersley
A T
AT
D000328:Adult; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D003638:Deafness / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D011247:Pregnancy; D012737:Sex Factors
D004272:DNA, Mitochondrial