Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1

Mutations in DPAGT1 are a newly recognised cause of congenital myasthenic syndrome. DPAGT1 encodes an early component of the N-linked glycosylation pathway. Initially mutations in DPAGT1 have been associated with the onset of the severe multisystem disorder – congenital disorder of glycosylation typ...

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Detalles Bibliográficos
Autores principales: Basiri, Keivan, Belaya, Katsiaryna, Liu, Wei Wei, Maxwell, Susan, Sedghi, Maryam, Beeson, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746154/
https://www.ncbi.nlm.nih.gov/pubmed/23591138
http://dx.doi.org/10.1016/j.nmd.2013.03.003

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