Abstract
We investigated a patient with mitochondrial myopathy accompanied by cardiomyopathy. Molecular analysis disclosed a C-to-G substitution at nucleotide position 3254 of the mitochondrial tRNA(Leu)(UUR). Pedigree analysis revealed that this mutation was inherited maternally. Mutation C3254G may also be a candidate for genetic defects in mitochondrial myopathy.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Base Sequence
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Cardiomyopathies / complications
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DNA, Mitochondrial / genetics*
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Humans
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Male
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Mitochondrial Myopathies / complications
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Mitochondrial Myopathies / genetics*
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Mitochondrial Myopathies / pathology
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Molecular Sequence Data
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Muscles / pathology
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Pedigree
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Point Mutation*
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RNA, Transfer, Leu / genetics*
Substances
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DNA, Mitochondrial
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RNA, Transfer, Leu