Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion.
case_report · Level V
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- Record sourced from PubMed, PMID 8530947.
- Also identified by PMC identifier 1073725.
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Abstract
A 25 year old woman, without family history of muscular dystrophy, had had an isolated lower limb hypertrophy since infancy and later experienced exercise-induced myalgia. Genomic DNA analysis showed a deletion of exons 45 to 52 of the dystrophin gene. Uncommon phenotypes of dystrophinopathies and consequences in genetic counselling in women are emphasised.
Medical subject headings
- Dystrophin
- Exercise
- Leg
- Muscular Diseases