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

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants.

BMC neurology - 1 Nov 2022

Wang Ning, Han Xu, Hao Shengpu, Han Jingzhe, Zhou Xiaomeng, Sun Shuyan, Tang Jin, Lu Yanpeng, Wu Hongran, Ma Shaojuan, Song Xueqin, Ji Guang

Abstract excerpt

BACKGROUND: Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics. METHODS: We reviewed the clinical and pathological data as well as the molecular characteristics of 26 Chinese patients with dysferlinopathy screened by immunohistochemistry staining and pathogenic...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Diagnostic Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Distal Myopathies

Share to Dysferlin

Share to Membrane Proteins

Share to Muscle Proteins

Share to Muscular Dystrophies, Limb-Girdle

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 36319958
DOI: 10.1186/s12883-022-02905-w
PMCID: PMC9623978

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants.PMID 36319958Read ↗

Clinical heterogeneity and molecular characteristics in a group of Chinese patients with dysferlinopathySemantic proximity Read ↗

Heterogeneous characteristics of Korean patients with dysferlinopathy.Semantic proximity Read ↗

Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.Semantic proximity Read ↗

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.Semantic proximity Read ↗

A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathySemantic proximity Read ↗

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.Semantic proximity Read ↗

Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic AnalysesSemantic proximity Read ↗

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.Semantic proximity Read ↗

Dysferlinopathy in Iran: Clinical and genetic report.Semantic proximity Read ↗

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.Semantic proximity Read ↗

A novel biallelic mutation in the DYSF gene as a cause of Miyoshi myopathy.Semantic proximity Read ↗

Dysferlinopathies: Clinical and genetic variability.Semantic proximity Read ↗

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