Merosin-deficient congenital muscular dystrophy in two siblings.
نویسندگان
چکیده
Congenital muscular dystrophies are a group of heterogeneous inherited autosomal recessive disorders. The so-called 'pure' or 'occidental' form is further divided into merosin-positive and merosin-negative subgroups. Merosin is also expressed in the nervous system and its deficiency could affect development of the nervous system. The authors report two siblings with merosin-negative congenital muscular dystrophy. The clinical picture, biopsy findings, and abnormalities as detected by the magnetic resonance imaging of the two patients are presented.
منابع مشابه
Merosin-deficient congenital muscular dystrophy type 1A.
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ورودعنوان ژورنال:
- Hong Kong medical journal = Xianggang yi xue za zhi
دوره 10 6 شماره
صفحات -
تاریخ انتشار 2004