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Article

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy

1 Apr 1995

Abstract excerpt

We studied 19 symptomatic female carriers of the Duchenne muscular dystrophy (DMD) gene. Most of these dystrophinopathy patients had had an erroneous or ambiguous diagnosis prior to dystrophin immunofluorescence testing. We assessed clinical severity by a standardized protocol, measured X-chromosome inactivation patterns in blood and muscle DNA, and quantitated the dystrophin protein content of muscle. We found...

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PMID: 7723955
DOI: 10.1212/wnl.45.4.677

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Related research

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Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophyPMID 7723955Read ↗

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A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family.Semantic proximity Read ↗

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Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophySemantic proximity Read ↗

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