Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, contractures of multiple joints, and distal hyperextensibility. Homozygous and compound heterozygous mutations of COL6A2 on chromosome 21q22 have recently been shown to cau...

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Main Authors: Demir, Ercan, Sabatelli, Patrizia, Allamand, Valérie, Ferreiro, Ana, Moghadaszadeh, Behzad, Makrelouf, Mohamed, Topaloglu, Haluk, Echenne, Bernard, Merlini, Luciano, Guicheney, Pascale
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2002
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC419991/
https://ncbi.nlm.nih.gov/pubmed/11992252
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