Bethlem肌病临床诊治研究进展

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Bethlem肌病是先天性肌营养不良的一种亚型,最早于1976年由Bethlem和 van Wijngaarden报道,是由细胞外基质中Ⅵ型胶原基因的突变导致,以四肢近端缓慢进展的肌无力及手指、腕、肘、踝关节的挛缩为主要临床表现.Bethlem肌病属罕见病,国内尚无相关的详细报道,文章就该病的发病机制、诊断及治疗做一综述,以提高临床医师对该病的认识.“,”Bethlem myopathy is a subtype of congenital muscular dystrophy, it has first been described in medical literature in 1976 by Bethlem and van Wijngaarden,it was caused by mutations in the extracellular matrix protein col lagen VI. Its character istic features include proximal muscle weakness and wasting, and contractures commonly involving the finger, elbow, and ankle joints. The disease is a rare disease; there are no detailed reports in China. The aim of this paper was to summarize the pathogenesis, clinical manifestation, diagnosis and treatment of Bethlem myopathy, which help to promote the recognition of this disease.
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