均质小体肌病

定义 英文原文（暂无中文）

A rare congenital myopathy characterized by generalized proximal and distal muscle weakness and/or atrophy with slow progression. A subset of patients present with scapuloperoneal weakness and scapular winging. Disease onset usually occurs during infancy/childhood, but adult-onset cases have also been reported. Patients may have respiratory problems and/or cardiomyopathy. Muscle biopsies show hyaline body inclusions in type I fibers.

别名

Hyaline body myopathy

基本事实

遗传方式

常染色体显性、常染色体隐性

发病年龄

成年期、儿童期

外部标识与链接