PT  - JOURNAL ARTICLE
AU  - D Malapert
AU  - D Recan
AU  - F Leturcq
AU  - J D Degos
AU  - R K Gherardi
TI  - Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion.
AID  - 10.1136/jnnp.59.5.552
DP  - 1995 Nov 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 552--554
VI  - 59
IP  - 5
4099  - http://jnnp.bmj.com/content/59/5/552.short
4100  - http://jnnp.bmj.com/content/59/5/552.full
SO  - J Neurol Neurosurg Psychiatry1995 Nov 01; 59
AB  - 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.