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Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 2A"
Page 1
Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports.
Curr Neuropharmacol. 2021;19(5):718-729. doi: 10.2174/1570159X18666200729092332.
Curr Neuropharmacol. 2021.
PMID: 32727330
Free PMC article.
BACKGROUND: Congenital myasthenic syndromes (CMSs) are a heterogeneous group of neuromuscular disorders. ...
BACKGROUND: Congenital myasthenic syndromes (CMSs) are a heterogeneous group of neuromuscular disorders. ...
Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).
Chen Q, Müller JS, Pang PC, Laval SH, Haslam SM, Lochmüller H, Dell A.
Chen Q, et al.
Biomolecules. 2015 Oct 16;5(4):2758-81. doi: 10.3390/biom5042758.
Biomolecules. 2015.
PMID: 26501342
Free PMC article.
It has been reported that GFPT1 mutations lead to a distinct sub-class of congenital myasthenic syndromes (CMS) termed "limb-girdle CMS with tubular aggregates". ...To investigate whether alterations in protein glycosylation at the neuromuscular junction migh …
It has been reported that GFPT1 mutations lead to a distinct sub-class of congenital myasthenic syndromes (CMS) termed …
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