Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

The aim of this retrospective study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies (CMD) with reduced glycosylation of alphadystroglycan (α-DG). Thirteen of the 115 patients included in the study died between the age of 1 month and 2...

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Detalles Bibliográficos
Autores principales: Pane, M., Messina, S., Vasco, G., Foley, A.R., Morandi, L., Pegoraro, E., Mongini, T., D’Amico, A., Bianco, F., Lombardo, M.E., Scalise, R., Bruno, C., Berardinelli, A., Pini, A., Moroni, I., Mora, M., Toscano, A., Moggio, M., Comi, G., Santorelli, F.M., Bertini, E., Muntoni, F., Mercuri, E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476532/
https://www.ncbi.nlm.nih.gov/pubmed/22727687
http://dx.doi.org/10.1016/j.nmd.2012.05.006

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