Marked Hemiatrophy in Carriers of Duchenne Muscular Dystrophy
نویسندگان
چکیده
منابع مشابه
Marked hemiatrophy in carriers of Duchenne muscular dystrophy.
OBJECTIVE To describe the clinical and molecular genetic findings in 2 carriers of Duchenne muscular dystrophy (DMD) who exhibited marked hemiatrophy. Duchenne muscular dystrophy is an X-linked disorder in which affected male patients harbor mutations in the dystrophin gene. Female patients with heterozygous mutations may be manifesting carriers. DESIGN Case study. SETTING Neurology clinic....
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Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2010
ISSN: 0003-9942
DOI: 10.1001/archneurol.2010.58