RT Journal Article
SR Electronic
T1 Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion.
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 552
OP 554
DO 10.1136/jnnp.59.5.552
VO 59
IS 5
A1 D Malapert
A1 D Recan
A1 F Leturcq
A1 J D Degos
A1 R K Gherardi
YR 1995
UL http://jnnp.bmj.com/content/59/5/552.abstract
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.