Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion.
Open Access
- 1 November 1995
- journal article
- case report
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 59 (5) , 552-554
- https://doi.org/10.1136/jnnp.59.5.552
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.Keywords
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