2 SIBLINGS WITH NEMALINE MYOPATHY PRESENTING WITH RIGID-SPINE-SYNDROME

被引：20

作者：

TOPALOGLU, H ^{[1
]}

GOGUS, S ^{[1
]}

YALAZ, K ^{[1
]}

KUCUKALI, T ^{[1
]}

SERDAROGLU, A ^{[1
]}

机构：

[1] UNIV HACETTEPE,CHILDRENS HOSP,DEPT PATHOL,ANKARA 06100,TURKEY

来源：

NEUROMUSCULAR DISORDERS | 1994年 / 4卷 / 03期

关键词：

RIGID SPINE SYNDROME; NEMALINE MYOPATHY;

D O I：

10.1016/0960-8966(94)90028-0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Two siblings, ages 20 and 19 presented with more than 10 yr history of spinal rigidity and scoliosis. The parents were first cousins. Muscle biopsies were consistent with nemaline myopathy. This has been the first association between a familial rigid spine syndrome and nemaline myopathy.

引用

页码：263 / 267

页数：5

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