Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion. Issue 5 (November 1995)

• Record Type: Journal Article
• Authors: Malapert, D; Recan, D; Leturcq, F; Degos, J D; Gherardi, R K
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 59:Issue 5(1995)
• Page Start: 552
• Page End: 554
• Publication Date: 1995-11
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.59.5.552
• Languages: English
• ISSNs: 0022-3050

Abstract

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.