Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion.
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.
Département de Neurosciences, Centre Hospitalo-Universitaire Henri Mondor, Créteil, France.
D
D
Malapert
D
D
Recan
F
F
Leturcq
J D
JD
Degos
R K
RK
Gherardi
D000328:Adult; D016189:Dystrophin / Q000235:genetics*; D015444:Exercise; D005260:Female; D006801:Humans; D006984:Hypertrophy; D007866:Leg; D009135:Muscular Diseases / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics
D016189:Dystrophin