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 in China: genetic and myopathological characterization

23 Mar 2021

Abstract excerpt

OBJECTIVE: We 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. METHODS: The 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....

Read the complete abstract on PubMed

Topics

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

Share to Myasthenia Gravis and Thymoma
Share to Parkinson's Disease and Spinal Disorders
Share to Vascular Malformations and Hemangiomas

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33756069
DOI: 10.1002/acn3.51346

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 in China: genetic and myopathological characterizationPMID 33756069Read ↗

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

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.Semantic proximity Read ↗

Congenital myasthenic syndromesSemantic proximity Read ↗

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

Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features.Semantic proximity Read ↗

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.Semantic proximity Read ↗

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

A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle.Semantic proximity Read ↗

Clinical and genetic basis of congenital myasthenic syndromes.Semantic proximity Read ↗

Congenital myasthenic syndromes: an update.Semantic proximity Read ↗

Congenital muscular dystrophies in ChinaSemantic proximity Read ↗

Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.Semantic proximity Read ↗

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