Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
Background A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported. While many other CMSassociated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an une...
المؤلفون الرئيسيون: | Finlayson, S, Palace, J, Belaya, K, Walls, T, Norwood, F, Burke, G, Holton, J, Pascual-Pascual, S, Cossins, J, Beeson, D |
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التنسيق: | Journal article |
اللغة: | English |
منشور في: |
2013
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مواد مشابهة
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Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
حسب: Finlayson, S, وآخرون
منشور في: (2013) -
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates
حسب: Belaya, K, وآخرون
منشور في: (2012) -
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
حسب: Belaya, K, وآخرون
منشور في: (2012) -
Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
حسب: Belaya, K, وآخرون
منشور في: (2012) -
Congenital myasthenic syndrome caused by mutations in DPAGT.
حسب: Klein, A, وآخرون
منشور في: (2015)