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Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNALeu A to G mutation

✍ Scribed by Paul R Smith; Stephen C Bain; Peter A Good; Andrew T Hattersley; Anthony H Barnett; Jon M Gibson; Paul M Dodson

Book ID: 117329604
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 450 KB
Volume: 106
Category: Article
ISSN: 0161-6420
DOI: 10.1016/s0161-6420(99)90244-0

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The A to G transition at nt.3243 of the tRNA Leu(UUR) gene of mtDNA, commonly associated with MELAS, was detected in several members of a family affected by a maternally inherited form of hypertrophic cardiomyopathy. These findings suggest adding cardiomyopathy in the list of phenotypes associated w