Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease

Congenital muscular dystrophies due to defects in genes encoding proteins involved in α-dystroglycan (α-DG) glycosylation are a heterogeneous group of muscle disorders variably associated with central nervous system and eye abnormalities. One of the more severe is muscle-eye-brain disease (MEB). Mut...

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Detalles Bibliográficos
Autores principales: Saredi, S., Ardissone, A., Ruggieri, A., Mottarelli, E., Farina, L., Rinaldi, R., Silvestri, E., Gandioli, C., D'Arrigo, S., Salerno, F., Morandi, L., Grammatico, P., Pantaleoni, C., Moroni, I., Mora, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405532/
https://www.ncbi.nlm.nih.gov/pubmed/22554691
http://dx.doi.org/10.1016/j.jns.2012.04.008

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