Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion

Abstract

A 25 year old woman, without family history of muscular dystrophy, had had an isolated lower limb hypertrophy since infancy and later experienced exerciseinduced 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. (J Neurol Neurosurg Psychiatry 1995;59:552-554).