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Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation

โœ Scribed by Paul Latkany; Thomas A. Ciulla; Paul Cucchillo; Marc D. Malkoff


Book ID
117020083
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
363 KB
Volume
128
Category
Article
ISSN
0002-9394

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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