Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations

OBJECTIVE: Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studied four unrelated families with six affected children that had typical UCMD with dominant...

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Autores principales: BOZORGMEHR, Bita, KARIMINEJAD, Ariana, NAFISSI, Shahriar, JEBELLI, Bita, ANDONI, Urtizberea, GARTIOUx, Corine, LEDEUIL, Celine, ALLAMAND, Valérie, RICHARD, Pascale, KARIMINEJAD, Mohammad-Hassan
Formato: Artigo
Lenguaje:Inglês
Publicado: Shahid Beheshti University of Medical Sciences 2013
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943075/
https://ncbi.nlm.nih.gov/pubmed/24665301
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