河南医科大学学报2000，Vol.35Issue(5)：433-435,3.
良性先天性肌营养不良一家系研究
A pedigree study on benign congenital muscular dystrophy
张宇瑾 1邱维勤1
作者信息
- 1. 上海铁道大学医学院附属甘泉医院医学遗传学教研室上海200065
- 折叠
摘要
Abstract
Aim: To study the clinicopathologic manifestation of a pedigree of autosomal dominant benign congenital musculardystrophy (BCMD). Methods:Pedigree investigation and pathological examination in the muscle biopsy of the proband and hisaunt were carried out. Fesults:A family with autosomal dominant BCMD affecting 6 members of both sexes in 3 generations wasdiscri bed. The onset of symptoms was in early childhood and progression was slow. The proximal hmb muscles was affected. Therewas no cardiomyopathy. CNS was not involved. An electrophisiological examination showed myopathy. CPK, LDH, GOT were elavat-ed. The histological findings,especially some mitochondrial abnormalities in the muscle biopsy were remarkable. Conclusion: Thecharacteristic of autosomal dominant BCMD is slow progression of clinical manifestation and multiform of pathological findings. It' sdifficult to make a pathological diagnosis.关键词
常染色体显性遗传/良性先天性肌营养不良/电生理学/肌活检Key words
autosomal dominant heredity/benign congenital muscular dystrophy/electrophysiology/muscle biopsy分类
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张宇瑾,邱维勤..良性先天性肌营养不良一家系研究[J].河南医科大学学报,2000,35(5):433-435,3.
