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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Bibliografski detalji
Glavni autori: BOZORGMEHR, Bita, KARIMINEJAD, Ariana, NAFISSI, Shahriar, JEBELLI, Bita, ANDONI, Urtizberea, GARTIOUx, Corine, LEDEUIL, Celine, ALLAMAND, Valérie, RICHARD, Pascale, KARIMINEJAD, Mohammad-Hassan
Format: Artigo
Jezik:Inglês
Izdano: Shahid Beheshti University of Medical Sciences 2013
Teme:
Original Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943075/
https://ncbi.nlm.nih.gov/pubmed/24665301
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