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

A novel biallelic mutation in the DYSF gene as a cause of Miyoshi myopathy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 28 Apr 2026

Sun Qian, Li Qiong-Qiong, Lyu Hai-Yan, Guo Chun-Ni, Zhang Lin-Yuan

Abstract excerpt

BACKGROUND AND PURPOSE: Miyoshi myopathy is an autosomal recessive distal myopathy resulting from pathogenic variants in the DYSF gene encoding dysferlin. This study aimed to characterize a novel biallelic DYSF gene mutation as a cause of Miyoshi myopathy through comprehensive clinical, genetic and pathological analysis. METHODS: We evaluated serum muscle enzymes and electromyography for myopathic features and...

Read the complete abstract on PubMed

Topics

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

Share to Distal Myopathies
Share to Dysferlin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DYSF gene

Share to Muscle, Skeletal

Share to Muscular Atrophy

Share to Mutation

Share to Young Adult

Source

Identifiers

PMID: 42047868
DOI: 10.1007/s10072-026-09060-x

Genes

DYSF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel biallelic mutation in the DYSF gene as a cause of Miyoshi myopathy.PMID 42047868Read ↗

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

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

Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathySemantic proximity Read ↗

Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report.Semantic proximity Read ↗

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.Semantic proximity Read ↗

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.Semantic proximity Read ↗

Dysferlinopathies: Clinical and genetic variability.Semantic proximity Read ↗

Dysferlinopathies.Semantic proximity Read ↗

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.Semantic proximity Read ↗

Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy.Semantic proximity Read ↗

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

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