Mitochondrial DNA transfer RNA mutation LEU(UUR)A→G 3260: a second family with myopathy and cardiomyopathy
- 1 July 1993
- journal article
- case report
- Published by Oxford University Press (OUP) in QJM: An International Journal of Medicine
- Vol. 86 (7) , 435-438
- https://doi.org/10.1093/oxfordjournals.qjmed.a068839
Abstract
A family with maternally inherited myopathy and cardiomyopathy is described. Mitochondrial DNA analysis showed a heteroplasmic point mutation at position 3260 in the leucine transfer RNA gene, previously reported in a large Italian family with a similar phenotype. This observation confirms pathogenicity of this mutation and suggests phenotypic specificity.Keywords
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