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Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation
Author(s) -
Murphy R.,
Turnbull D. M.,
Walker M.,
Hattersley A. T.
Publication year - 2008
Publication title -
diabetic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.474
H-Index - 145
eISSN - 1464-5491
pISSN - 0742-3071
DOI - 10.1111/j.1464-5491.2008.02359.x
Subject(s) - medicine , genetic testing , genetic diagnosis , diabetes mellitus , genetic counseling , point mutation , mitochondrial dna , mutation , intensive care medicine , pediatrics , bioinformatics , genetics , gene , endocrinology , biology
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.