TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

The dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Recently, mutations in TMEM5 have been described in severe dystroglycanopathies. We pre...

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Enregistré dans:
Détails bibliographiques
Publié dans:Neuromuscul Disord
Auteurs principaux: Astrea, Guja, Pezzini, Ilaria, Picillo, Ester, Pasquariello, Rosa, Moro, Francesca, Ergoli, Manuela, D'Ambrosio, Paola, D'Amico, Adele, Politano, Luisa, Santorelli, Filippo Maria
Format: Artigo
Langue:Inglês
Publié: Pergamon Press 2016
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4925463/
https://ncbi.nlm.nih.gov/pubmed/27212206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2016.05.003
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