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Article

Dysferlinopathy due to a homozygous DYSF DysF-domain variant in a non-consanguineous Tunisian family.

Molecular biology reports - 21 Feb 2026

Belhassen Ikhlass, Rodríguez Cruz Pedro M, Sakka Salma, Nectoux Juliette, Daoued Sawsan, Mhiri Chokri, Leturcq France, Dammak Mariem

Abstract excerpt

BACKGROUND: Dysferlinopathies are autosomal recessive neuromuscular disorders caused by pathogenic variants in the DYSF gene, most commonly presenting as limb-girdle muscular dystrophy type R2 (LGMD R2). In this study, we investigated a non-consanguineous Tunisian family with a classical proximal dysferlinopathy phenotype. METHODS AND RESULTS: Two affected male siblings underwent comprehensive clinical and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41721951
DOI: 10.1007/s11033-026-11596-2

Genes

DYSF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Dysferlinopathy due to a homozygous DYSF DysF-domain variant in a non-consanguineous Tunisian family.PMID 41721951Read ↗

Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective.Semantic proximity Read ↗

A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.Semantic proximity Read ↗

DYSFgene variant spectrum in Arab populations across eight countries: A systematic review.Semantic proximity Read ↗

Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.Semantic proximity Read ↗

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.Semantic proximity Read ↗

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

Crystal structures of the human Dysferlin inner DysF domainSemantic proximity Read ↗

Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.Semantic proximity Read ↗

Novel splicing dysferlin mutation causing myopathy with intra-familial heterogeneity.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 ↗

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

An in-frame pseudoexon activation caused by a novel deep-intronic variant in the dysferlin gene.Semantic proximity Read ↗

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