Early-onset myopathy with tubular aggregates

被引：9

作者：

Tulinius, MH ^{[1
]}

Lundberg, A ^{[1
]}

Oldfors, A ^{[1
]}

机构：

[1] GOTHENBURG UNIV,SAHLGRENS HOSP,DEPT PATHOL,S-41345 GOTHENBURG,SWEDEN

来源：

PEDIATRIC NEUROLOGY | 1996年 / 15卷 / 01期

关键词：

D O I：

10.1016/0887-8994(96)00094-X

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a lit-year-old girl with early onset of slowly progressive muscular weakness and atrophy, There was no family history of neuromuscular disease, A persistent increase of serum creatine kinase was found, Muscle biopsy specimens showed type 1 fiber predominance and tubular aggregates in almost every fiber. The clinical findings and pathology suggest that the disease represents one variant in a group of rare myopathies with different patterns of inheritance, characterized by slowly progressive muscle weakness and tubular aggregates.

引用

页码：68 / 71

页数：4

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