心肌病、智力发育迟缓与自噬性空泡性肌病。

Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy.

作者信息

Hart Z H, Servidei S, Peterson P L, Chang C H, DiMauro S

出版信息

Neurology. 1987 Jun;37(6):1065-8. doi: 10.1212/wnl.37.6.1065.

DOI:10.1212/wnl.37.6.1065

Abstract

Two brothers had nonobstructive hypertrophic cardiomyopathy, mental retardation, and vacuolar myopathy, and their mother died of cardiopathy at age 31. Seven families with this syndrome have been described; heredity appears to be X-linked dominant or autosomal dominant, with different expressivity in males and females. The biochemical cause of this lysosomal storage disease is unknown.

摘要

两兄弟患有非梗阻性肥厚型心肌病、智力发育迟缓及空泡性肌病，他们的母亲31岁时死于心脏病。已报道了7个患有该综合征的家族；遗传方式似乎为X连锁显性或常染色体显性，在男性和女性中有不同的表现度。这种溶酶体贮积病的生化病因尚不清楚。