Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation
Author:
Publisher
Wiley
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Internal Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1464-5491.2008.02359.x/fullpdf
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1. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
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3. A MERRF/PEO overlap syndrome associated with the mitochondria1 DNA 3243 mutation
4. External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation
5. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
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