Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Congenital myasthenic syndrome related to SLC25A1 gene variant: two cases report and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jan 2021

Li W H, Wu B B, Zhou S Z

Abstract excerpt

Objective: To investigate the clinical characteristics and genetic features of congenital myasthenic syndrome (CMS) related to SLC25A1 gene variant. Methods: The clinical data of two SLC25A1 gene variant related CMS patients treated at the Children's Hospital of Fudan University between January 2015 and June 2019 were analyzed retrospectively. A literature search with "SLC25A1" and "congenital myasthenic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain Diseases, Metabolic, Inborn
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Proteins

Share to Myasthenic Syndromes, Congenital

Share to Organic Anion Transporters

Share to Pedigree

Source

Identifiers

PMID: 33397003
DOI: 10.3760/cma.j.cn112140-20200730-00767

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Congenital myasthenic syndrome related to SLC25A1 gene variant: two cases report and literature review].PMID 33397003Read ↗

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.Semantic proximity Read ↗

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.Semantic proximity Read ↗

A cohort of GFPT1 related Congenital Myasthenic Syndrome in China: High Frequency of c.331C>T VariantSemantic proximity Read ↗

Congenital myasthenic syndrome due to compound heterozygous mutations in the GFPT1 geneSemantic proximity Read ↗

Genotypic and phenotypic spectrum of congenital myasthenic syndrome: Insights from Southeastern Türkiye.Semantic proximity Read ↗

[Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene].Semantic proximity Read ↗

[Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene].Semantic proximity Read ↗

Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations.Semantic proximity Read ↗

Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.Semantic proximity Read ↗

Congenital myasthenic syndrome due to a genetic mutation.Semantic proximity Read ↗

Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.Semantic proximity Read ↗

Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.