Ullrich disease: Collagen VI deficiency: EM suggests a new basis for muscular weakness
Ullrich disease: Collagen VI deficiency: EM suggests a new basis for muscular weakness
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DOI：
10.1212/wnl.59.6.920
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发表时间：
2002-09-24
期刊：
影响因子：
9.9
通讯作者：
Nonaka, I
中科院分区：
文献类型：
--
作者：
Ishikawa, H;Sugie, K;Nonaka, I
乌尔里奇病是一种先天性肌营养不良症，临床表现为全身性肌肉无力、近端关节痉挛和远端关节从出生或早期起就高度柔韧。最近，VI型胶原基因突变与乌尔里希病有关。作者报道了一名患有乌尔里奇病的男孩，他完全缺乏VI型胶原，并在VI型胶原α2基因上存在复合杂合性突变。EM上微纤维的缺失，以及正常的胶原纤维和基底板，提示间质和基底板之间联系的缺失可能是肌营养不良的一个新的分子病理机制。
Ullrich disease is a form of congenital muscular dystrophy characterized clinically by generalized muscle weakness, contractures of the proximal joints, and hyperflexibility of the distal joints from birth or early infancy. Recently, mutations of the collagen VI gene have been associated with Ullrich disease. The authors report on a boy with Ullrich disease who has complete deficiency of collagen VI and harbors compound heterozygous mutations in the collagen VI alpha 2 gene. Absence of microfibrils on EM, together with normal collagen fibrils and basal lamina, suggests that loss of a link between interstitium and basal lamina may be a new molecular pathomechanism of muscular dystrophy.