Abstract
We describe a second patient carrying the 5698G-->A transition in the mitochondrial DNA gene encoding tRNA(Asn), who has an apparently isolated mitochondrial myopathy with chronic progressive external ophthalmoplegia. A muscle biopsy showed the presence of ragged-red and COX-negative fibres. Analysis of the mutation load on single muscle fibres showed significant segregation of the 5698G-->A with COX-depleted fibres. These results indicate that the 5698G-->A is pathogenic.
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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Adenine / metabolism
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Aged
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Base Sequence / genetics
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Chronic Disease
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DNA, Mitochondrial / genetics*
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Electron Transport Complex IV / metabolism
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Guanine / metabolism
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Humans
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Male
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Muscle Fibers, Skeletal / metabolism
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Muscle Fibers, Skeletal / pathology
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Oculomotor Muscles / metabolism
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Oculomotor Muscles / pathology
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Oculomotor Muscles / physiopathology*
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Ophthalmoplegia, Chronic Progressive External / genetics*
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Ophthalmoplegia, Chronic Progressive External / metabolism
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Ophthalmoplegia, Chronic Progressive External / physiopathology
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Point Mutation / genetics*
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RNA, Transfer, Asn / genetics
Substances
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DNA, Mitochondrial
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RNA, Transfer, Asn
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Guanine
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Electron Transport Complex IV
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Adenine