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Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42

We have previously reported an autosomal recessive form of congenital muscular dystrophy, characterized by proximal girdle weakness, generalized muscle hypertrophy, rigidity of the spine, and contractures of the tendo Achilles, in a consanguineous family from the United Arab Emirates. Early respirat...

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Detalhes bibliográficos
Main Authors: Brockington, Martin, Sewry, Caroline A., Herrmann, Ralf, Naom, Isam, Dearlove, Andrew, Rhodes, Michael, Topaloglu, Haluk, Dubowitz, Victor, Voit, Thomas, Muntoni, Francesco
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288095/
https://ncbi.nlm.nih.gov/pubmed/10677302
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