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Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

Lookup NU author(s): Emeritus Professor Doug Turnbull, Professor Mark Walker, Anne Hattersley

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Abstract

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. © 2008 The Authors.

Publication metadata

Author(s): Murphy R, Turnbull DM, Walker M, Hattersley AT

Publication type: Article

Publication status: Published

Journal: Diabetic Medicine

Year: 2008

Volume: 25

Issue: 4

Pages: 383-399

ISSN (print): 0742-3071

ISSN (electronic):

Publisher: Wiley-Blackwell Publishing Ltd.

URL: http://dx.doi.org/10.1111/j.1464-5491.2008.02359.x

DOI: 10.1111/j.1464-5491.2008.02359.x

PubMed id: 18294221

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