CONGENITAL MUSCULAR-DYSTROPHY IN MARINESCO-SJOGREN SYNDROME

被引：13

作者：

TACHI, N

NAGATA, N

WAKAI, S

CHIBA, S

机构：

[1] Department of Pediatrics, Sapporo Medical College, Sapporo

来源：

PEDIATRIC NEUROLOGY | 1991年 / 7卷 / 04期

关键词：

D O I：

10.1016/0887-8994(91)90049-Q

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The histochemical and immunocytochemical findings of biopsied muscle in a 2-year-old girl with Marinesco-Sjogren syndrome are reported. Muscle histology consisted of mild muscular dystrophy, such as that found in limb-girdle or non-Fukuyama congenital muscular dystrophy. By immunocytochemical stain using anti-dystrophin antibody, Duchenne and Becker muscular dystrophies were excluded. In addition to characteristic clinical features, including ataxia, congenital cataract, and psychomotor retardation, muscle involvement is essential to the diagnosis of Marinesco-Sjogren syndrome.

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页码：296 / 298

页数：3

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