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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Demir, Ercan, Sabatelli, Patrizia, Allamand, Valérie, Ferreiro, Ana, Moghadaszadeh, Behzad, Makrelouf, Mohamed, Topaloglu, Haluk, Echenne, Bernard, Merlini, Luciano, Guicheney, Pascale
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2002
Schlagworte:
Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC419991/
https://ncbi.nlm.nih.gov/pubmed/11992252
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge