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A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

✍ Scribed by G. Manfredi; E.A. Schon; C.T. Moraes; E. Bonilla; G.T. Berry; J.T. Sladky; S. Dimauro


Book ID
116168527
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
978 KB
Volume
5
Category
Article
ISSN
0960-8966

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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