杜氏肌营养不良症携带者中抗肌萎缩蛋白阴性的骨骼肌和心肌细胞

Dystrophin negative skeletal and myocardial muscle cells in a carrier of Duchenne's muscular dystrophy.

作者信息

Watanabe K, Izumi T, Natsui M, Matsubara N, Miyakita Y, Koyama S, Inomata T, Suzuki M, Shibata A

机构信息

Division of Cardiology, Tsubame Rosai Hospital, Niigata, Japan.

出版信息

Eur Heart J. 1993 Jul;14(7):989-92. doi: 10.1093/eurheartj/14.7.989.

DOI:10.1093/eurheartj/14.7.989

PMID:8375425

Abstract

A 47-year-old woman whose elder son had typical Duchenne's muscular dystrophy (DMD) was diagnosed as the manifesting carrier of the disease. She had developed congestive heart failure but had no evidence of skeletal muscular atrophy. Histological observation of the cardiac muscle revealed a mosaic pattern of dystrophin negative fibres detected by immunofluorescence analysis.

摘要

一名47岁女性，其长子患有典型的杜氏肌营养不良症（DMD），被诊断为该疾病的显性携带者。她已发展为充血性心力衰竭，但无骨骼肌萎缩迹象。通过免疫荧光分析对心肌进行组织学观察，发现肌营养不良蛋白阴性纤维呈镶嵌模式。