Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity Distrofia muscular congênita com hiperextensibilidade articular distal (Ullrich) e miopatia de Bethlem: heterogeneidade clínica e genética

Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity Distrofia muscular congênita com hiperextensibilidade articular distal (Ullrich) e miopatia de Bethlem: heterogeneidade clínica e genética

Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE: To evaluate the clinical pictu...

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Bibliographic Details
Main Authors: Umbertina Conti Reed, Lucio Gobbo Ferreira, Enna Cristina Liu, Maria Bernadete Dutra Resende, Mary Souza Carvalho, Suely Kazue Marie, Milberto Scaff
Format: Article
Language:English
Published: Thieme Revinter Publicações 2005-09-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
distrofia muscular congênita
hiperextensibilidade articular
colágeno VI
fenótipo Ullrich
miopatia de Bethlem
Ullrich congenital muscular dystrophy
congenital muscular dystrophy
joint hyperlaxity
collagen VI
Bethlem myopathy
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000500013
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