ArticleAnnals of clinical and translational neurology2021
Congenital myasthenic syndrome in China: genetic and myopathological characterization.
Article in Annals of clinical and translational neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Pharmacological Treatments for Congenital Myasthenic Syndromes Caused byCurrent neuropharmacology · 2023Pooled it
- Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China.CNS neuroscience & therapeutics · 2026Article
- Congenital myasthenic syndromes in a Southeast Asian adult neurology clinic: a long road to diagnosis and therapy.BMC neurology · 2026Article
- Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction.European journal of neurology · 2026Article
- Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.Pediatric research · 2025Article
- A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.Orphanet journal of rare diseases · 2025Article
- Novel PNPLA8 variants associated with primary ovarian insufficiency, tremors, cerebellar ataxia and limb weakness: a case report and literature review.Journal of neurology · 2024Review
- Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Brain : a journal of neurology · 2024Article
- COLQ-related congenital myasthenic syndrome: An integrative view.Neurogenetics · 2023Article
- Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease.International journal of molecular sciences · 2023Review
- Congenital Myasthenic Syndrome Associated With SLC25A1 Gene Variant: The First Reported Case in Saudi Arabia.Cureus · 2023Article
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Article
- GDP-Mannose Pyrophosphorylase B (Genes · 2023Review
- Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.Journal of cellular and molecular medicine · 2022Article
- Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.Brain and behavior · 2022Article
- Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature.Frontiers in neurology · 2022Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital myasthenic syndrome, and follow up on therapeutic outcomes.
methodsThe clinical spectrum, mutational frequency of genes, and pathological diagnostic clues of various subtypes of patients with congenital myasthenic syndrome were summarized. Therapeutic effects were followed up.
resultsThirty-five patients from 29 families were recruited. Ten genes were identified: GFPT1 (27.6%), AGRN (17.2%), CHRNE (17.2%), COLQ (13.8%), GMPPB (6.9%), CHAT, CHRNA1, DOK7, COG7, and SLC25A1 (3.4% each, respectively). Sole limb-girdle weakness was found in patients with AGRN (1/8) and GFPT1 (7/8) mutations, whereas distal weakness was all observed in patients with AGRN (6/8) mutations. Tubular aggregates were only found in patients with GFPT1 mutations (5/6). The patients with GMPPB mutations (2/2) had decreased alpha-dystroglycan. Acetylcholinesterase inhibitor therapy resulted in no response or worsened symptoms in patients with COLQ mutations, a diverse response in patients with AGRN mutations, and a good response in patients with other subtypes. Albuterol therapy was effective or harmless in most subtypes. Therapy effects became attenuated with long-term use in patients with COLQ or AGRN mutations.
interpretationThe genetic distribution of congenital myasthenic syndrome in China is distinct from that of other ethnic origins. The appearance of distal weakness, selective limb-girdle myasthenic syndrome, tubular aggregates, and decreased alpha-dystroglycan were indicative of the specific subtypes. Based on the follow-up findings, we suggest cautious evaluation of the long-term efficacy of therapeutic agents in congenital myasthenic syndrome.
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