Evidence map›Paper›PMID 40442802›Full record

ArticleOrphanet journal of rare diseases2025

A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.

Jialong Zhang, Xinyu Chen, Chong Yan, Xinyu Gu, Wenhua Zhu, Xuwei Cao, Lei Zhou, Sushan Luo, Jie Lin, Zunbo Li and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Congenital myasthenic syndrome due to novelJournal of neuromuscular diseases · 2026
    Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Jialong Zhang *Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
Xinyu Chen *Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
Chong YanDepartment of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
Xinyu GuDepartment of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
Wenhua ZhuDepartment of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
Xuwei CaoDepartment of Neurology, Affiliated Hospital of Guizhou Medical University, Guiyang, 550004, China.
Lei ZhouDepartment of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
Sushan LuoDepartment of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
Jie LinDepartment of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
Zunbo LiDepartment of Neurology, Xi'an Gaoxin Hospital, Xi'an Medical College, Xi'an, 710075, China.
Jiahong LuDepartment of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
Chongbo ZhaoDepartment of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
Kai QiaoDepartment of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
Xuefan YuDepartment of Neurology, the First Affiliated Hospital of Jilin University, Changchun, 130021, China. yuxuefan@jlu.edu.cn.
Jianying XiDepartment of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China. xijianying@fudan.edu.cn.ORCID http://orcid.org/0000-0003-1028-3801

Funding

National Natural Science Foundation of China 82271437
6 · The paper itself

Abstract

backgroundGlutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the key enzyme initiating protein O- and N-glycosylation at the postsynaptic membrane. Variants in GFPT1 gene cause congenital myasthenic (GFPT1-CMS). However, the understanding of the phenotype and genetic spectrum of GFPT1-CMS remains limited.

methodsA total of 24 patients with GFPT1-CMS from 22 Han Chinese families across four neuromuscular disease centers were included in this study. Clinical assessments involved detailed medical histories, muscle biopsies, and electrophysiological studies. GFPT1 variants were identified using targeted next-generation sequencing or WES. Additionally, published GFPT1-CMS case data from 2011 to 2024 were compiled and combined with this cohort for genotype-phenotype correlation analysis.

resultsIn addition to the limb girdle myasthenia pattern, our cohort presented with extraocular involvement including eyelid ptosis and mild ophthalmoparesis (25.0%), facial weakness (20.8%) and a relatively high prevalence of distal weakness (62.5%). Electrophysiological testing revealed myopathic changes in 95.0% of cases and decremental CMAPs in all cases during RNS. We found that c.331 C > T is a hotspot variant in GFPT1-CMS patients and may have a founder effect in the Chinese population. Patients with homozygous null variants presented a more severe phenotype, including earlier onset and more frequent bulbar involvement.

conclusionWe have described the clinical features and variant spectrum in a cohort of 24 Chinese GFPT1-CMS patients. Our findings update the understanding of clinical manifestation, pathological features and mutational spectrum in GFPT1-CMS patients.

Indexed as

Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing)Myasthenic Syndromes, CongenitalAdolescentAdultChildChild, PreschoolChinaCohort StudiesFemaleHumansMaleMiddle AgedMutationYoung AdultGFPT1 protein, humanGlutamine-Fructose-6-Phosphate Transaminase (Isomerizing)Congenital myasthenic syndromeDistal muscle weaknessGlutamine-fructose-6-phosphate transaminase 1Tubular aggregates

Identifiers

PMID40442802
PMCPMC12124097

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.