Congenital muscular dystrophy and cerebellar atrophy

被引：11

作者：

Echenne, B ^{[1
]}

Rivier, F

Tardieu, M

Brive, M

Robert, A

Pages, AM

Pons, F

Mornet, D

机构：

[1] Hop St Eloi, Serv Neuropediat, F-34295 Montpellier 5, France

[2] Fac Pharm Montpellier, INSERM, U300, F-34060 Montpellier, France

[3] Ctr Hosp Bicetre, Dept Neuropediat, Bicetre, France

[4] Gui de Chauliac Ctr, Dept Anatomopathol, Montpellier, France

来源：

NEUROLOGY | 1998年 / 50卷 / 05期

关键词：

D O I：

10.1212/WNL.50.5.1477

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Two siblings and two other unrelated patients had congenital muscular weakness and dystrophic changes but normal immunocytochemical stainings for merosin, dystrophin, and dystrophin-related proteins on muscle biopsy. All had marked ataxia and cerebellar atrophy or hypoplasia. Cerebral white matter and cortical organization appeared normal.

引用

页码：1477 / 1480

页数：4

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