Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects Distrofia muscular congênita. Parte I: revisão dos aspectos fenotípicos e diagnósticos

Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects Distrofia muscular congênita. Parte I: revisão dos aspectos fenotípicos e diagnósticos

The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness assoc...

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Bibliographic Details
Main Author:	Umbertina Conti Reed
Format:	Article
Language:	English
Published:	Academia Brasileira de Neurologia (ABNEURO) 2009-03-01
Series:	Arquivos de Neuro-Psiquiatria
Subjects:	distrofia muscular congênita merosina colágeno VI glicosilação da alfa-distroglicana DMC Fukuyama DMC "muscle-eye-brain"-MEB síndrome de Walker-Warburg espinha rígida congenital muscular dystrophy MDC1A collagen VI related disorders glycosylation of alpha-dystroglycan Fukuyama DMC muscle-eye-brain (MEB) disease Walker-Warburg syndrome rigid spine syndrome
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000100038

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