Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.

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Mutations in GFPT1 underlie a congenital myasthenic syndrome (CMS) characterized by a limb-girdle pattern of muscle weakness. Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is a key rate-limiting enzyme in the hexosamine biosynthetic pathway providing building blocks for the glycosylation of...

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Xehetasun bibliografikoak
Egile Nagusiak:	Zoltowska, K, Webster, R, Finlayson, S, Maxwell, S, Cossins, J, Müller, J, Lochmüller, H, Beeson, D
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2013

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