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Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)
Author(s) -
Silvestri Gabriella,
Bertini Enrico,
Servidei Serenella,
Rana Michele,
Zachara Elisabetta,
Ricci Enzo,
Tonali Pietro
Publication year - 1997
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199702)20:2<221::aid-mus13>3.0.co;2-5
Subject(s) - mitochondrial dna , genetics , phenotype , mutation , cardiomyopathy , biology , melas syndrome , mitochondrial myopathy , clinical phenotype , microbiology and biotechnology , gene , medicine , heart failure
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 with the 3243 mutation. © 1997 John Wiley & Sons, Inc. Muscle Nerve , 20, 221–225, 1997.