Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2015 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

2 results

Results by year

Filters applied: . Clear all
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.
Huang K, Luo YB, Bi FF, Yang H. Huang K, et al. 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 …