Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

Protein-o-mannosyl transferase 1 (POMT1) is a glycosyltransferase involved in α-dystroglycan (α-DG) glycosylation. Clinical phenotype in POMT1-mutated patients ranges from congenital muscular dystrophy (CMD) with structural brain abnormalities, to limb-girdle muscular dystrophy (LGMD) with microceph...

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Detaylı Bibliyografya
Asıl Yazarlar: Bello, Luca, Melacini, Paola, Pezzani, Raffaele, D'Amico, Adele, Piva, Luisa, Leonardi, Emanuela, Torella, Annalaura, Soraru, Gianni, Palmieri, Arianna, Smaniotto, Gessica, Gavassini, Bruno F, Vianello, Andrea, Nigro, Vincenzo, Bertini, Enrico, Angelini, Corrado, Tosatto, Silvio C E, Pegoraro, Elena
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2012
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3499746/
https://ncbi.nlm.nih.gov/pubmed/22549409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.71
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