伴有身材矮小、近端挛缩和远端松弛的先天性肌营养不良。

Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.

作者信息

Mercuri E, Lampe A, Straub V, Yuva Y, Longman C, Wright M, Brown S, Sewry C, Bonnemann C, Kinali M, Brockington M, Hausser I, Hilton Jones D, Voit T, Bushby K, Muntoni F

机构信息

Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, London, UK.

出版信息

Neuropediatrics. 2004 Aug;35(4):224-9. doi: 10.1055/s-2004-821084.

DOI:10.1055/s-2004-821084

PMID:15328561

Abstract

We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of congenital muscular dystrophy (CMD) in association with short stature, proximal contractures, rigidity of the spine and distal joint laxity as well as early respiratory failure and mild to moderate mental retardation. The expression of collagen VI was confirmed to be normal on muscle biopsies of all 5 patients and in the informative family linkage to any of the three COL6 A loci was excluded. These findings extend the phenotypes within the CMD classification.

摘要

我们报告了5例（2例家族性和3例散发性）患者，他们均被诊断为先天性肌营养不良（CMD），伴有身材矮小、近端挛缩、脊柱僵硬和远端关节松弛，以及早期呼吸衰竭和轻度至中度智力障碍。在所有5例患者的肌肉活检中，胶原蛋白VI的表达被证实正常，并且在信息丰富的家族中排除了与三个COL6 A基因座中的任何一个的连锁关系。这些发现扩展了CMD分类中的表型。