Associated Papers
Dysferlinopathy due to a homozygous DYSF DysF-domain variant in a non-consanguineous Tunisian family.
Belhassen I et al.
Molecular Biology Reports, 2026
Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.
Mianesaz H et al.
Molecular Genetics & Genomic Medicine, 2023
Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.
Park J et al.
Genes, 2023
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Ten Dam L et al.
Journal of Neuromuscular Diseases, 2021
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.
Izumi R et al.
Human Mutation, 2020
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
Izumi R et al.
Neurology. Genetics, 2015
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
Walter MC et al.
Orphanet Journal of Rare Diseases, 2013
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