Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures.
نویسندگان
چکیده
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.
منابع مشابه
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Background and Objective: Duchenne Muscular Dystrophy(DMD) is a neuromuscular disorder with progressive muscle wasting and weakness. This disease is the consequence of mutations in dystrophin gene located on X chromosome. Inheritance pattern of the disease is gene-dependent recessive with an incidence of one in 3500 alive male newborns. Due to the absence of efficient treatment, detection of fe...
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ورودعنوان ژورنال:
- Neuromuscular disorders : NMD
دوره 13 4 شماره
صفحات -
تاریخ انتشار 2003