Revisão Revisado por pares

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

2008; Wiley; Volume: 25; Issue: 4 Linguagem: Inglês

10.1111/j.1464-5491.2008.02359.x

ISSN

1464-5491

Autores

Rinki Murphy, Douglass M. Turnbull, Mark Walker, Andrew T. Hattersley,

Tópico(s)

Genetics and Neurodevelopmental Disorders

Resumo

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.

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