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Article

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

Molecular biology reports - 1 Aug 2020

Rekik Sabrine, Sakka Salma, Romdhane Sawsan Ben, Amer Yasmine Baba, Lehkim Leila, Farhat Nouha, Mahfoudh Khaireddine Ben, Authier François Jérôme, Dammak Mariem, Mhiri Chokri

Abstract excerpt

Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular disorders, caused by mutations in the dysferlin gene and characterized by a high degree of clinical variability even though within the same family. This study aims to describe three cases, belonging to a consanguineous Tunisian family, sharing a new splicing mutation in the dysferlin gene and presenting intra-familial variability...

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Share to Dysferlin
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Muscular Diseases

Share to Muscular Dystrophies, Limb-Girdle

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Share to RNA Splicing

Source

Identifiers

PMID: 32666437
DOI: 10.1007/s11033-020-05643-9

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.

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