Abstract
We describe a 7-year-old girl who presented with loss of appetite, weakness and excercise intolerance. Enzyme investigation of the respiratory chain in muscle tissue revealed a combined complex I, III and IV deficiency. A novel heteroplasmic G-->A exchange at nucleotide position 14739 was found in the MTTE gene of the tRNA glutamic acid. The mutation load in muscle was 72%, urine sediment 38%, blood 31% and fibroblasts 29% and it correlated with COX-negative fibres. Our patient presented with a predominantly myopathic phenotype. The G14739A mutation is the third reported in the mitochondrial tRNA glutamic acid gene, and it occurred in a sporadic case.
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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Brain / pathology
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Child
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DNA Mutational Analysis
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Exercise Tolerance / genetics
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Female
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Genetic Predisposition to Disease / genetics
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Glutamic Acid / metabolism
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Humans
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Mitochondrial Diseases / genetics*
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Mitochondrial Diseases / metabolism
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Mitochondrial Diseases / physiopathology
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Mitochondrial Myopathies / genetics*
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Mitochondrial Myopathies / metabolism
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Mitochondrial Myopathies / physiopathology
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Muscle Fibers, Skeletal / metabolism
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Muscle Fibers, Skeletal / pathology
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Muscle Weakness / genetics
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Muscle Weakness / metabolism
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Muscle Weakness / physiopathology
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Muscle, Skeletal / metabolism*
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Mutation / genetics*
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RNA / genetics*
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RNA, Mitochondrial
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RNA, Transfer / genetics*
Substances
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RNA, Mitochondrial
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Glutamic Acid
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RNA
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RNA, Transfer