NEMALINE MYOPATHY - A REPORT OF 2 SIBLINGS AS EVIDENCE OF AUTOSOMAL RECESSIVE INHERITANCE OF THE INFANTILE TYPE

被引：6

作者：

CARTWRIGHT, JD

CASTLE, DJ

DUFFIELD, MG

REEF, I

机构：

[1] S AFRICAN INST MED RES,DEPT HUMAN GENET,JOHANNESBURG 2000,SOUTH AFRICA

[2] S AFRICAN INST MED RES,DEPT PATHOL,JOHANNESBURG 2000,SOUTH AFRICA

[3] JOHANNESBURG HOSP,DEPT PAEDIAT,JOHANNESBURG,SOUTH AFRICA

来源：

POSTGRADUATE MEDICAL JOURNAL | 1990年 / 66卷 / 781期

关键词：

D O I：

10.1136/pgmj.66.781.962

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report two opposite-sex siblings with the severe infantile form of nemaline myopathy; diagnoses were made on muscle biopsy. Neither parent showed clinical or electromyographic evidence of myopathy, and both had negative muscle biopsies. Autosomal recessive inheritance seems likely.

引用

页码：962 / 964

页数：3

共 10 条

[1] CONGENITAL NEMALINE MYOPATHY - 2 PATIENTS WITH CONSANGUINEOUS PARENTS, ONE WITH A PROGRESSIVE COURSE [J].