Abstract
We report a family where a predominantly proximal myopathy has become increasingly severe with successive generations of the maternal lineage. This pure myopathy has been caused by a mutation (m.5650G>A) in the mt-tRNA(Ala) gene that has been reported only once previously in a patient with CADASIL where the phenotype was dominated by neurological complications. This report is therefore the first description of the phenotype associated solely with this mutation and confirms its pathogenicity.
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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Alanine / genetics
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Base Sequence
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Child
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DNA Mutational Analysis
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Female
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics
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Genetic Testing
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Humans
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Inheritance Patterns / genetics
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Middle Aged
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Mitochondria / genetics
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Mitochondrial Myopathies / genetics*
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Mitochondrial Myopathies / pathology*
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Mitochondrial Myopathies / physiopathology
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Molecular Sequence Data
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Muscle Fibers, Skeletal / metabolism
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Muscle Fibers, Skeletal / pathology
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Muscle, Skeletal / pathology*
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Muscle, Skeletal / physiopathology
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Phenotype
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Point Mutation / genetics
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RNA, Transfer / genetics*
Substances
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Genetic Markers
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RNA, Transfer
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Alanine