Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures.
We describe a patient with somatic mosaicism of a point mutation in the dystrophin gene causing benign muscular dystrophy with an unusual asymmetrical distribution of muscle weakness and contractures. To our knowledge this is the first patient with asymmetrical weakness and contractures in an ambulatory patient with a dystrophinopathy.
Helderman-van den Enden
A T J M
AT
Center for Human and Clinical Genetics, Leiden University Medical Center K5-R, PO Box 9600, 2300 RC Leiden, The Netherlands. helderman@lumc.nl
Ginjaar
H B
HB
Kneppers
A L J
AL
Bakker
E
E
Breuning
M H
MH
de Visser
M
M
D000328:Adult; D003286:Contracture / Q000209:etiology* / Q000503:physiopathology; D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009030:Mosaicism; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D016189:Dystrophin