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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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000100038

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