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
Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.
Poudel BH et al.
International Journal of Molecular Sciences, 2024
Phenotypic and genotypic analysis of a patient with Miyoshi myopathy caused by truncated protein.
Zhou J et al.
Gene, 2024
Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.
Lin F et al.
Orphanet Journal of Rare Diseases, 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
A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene.
Cao X et al.
Frontiers in Neurology, 2023
The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants.
Wang N et al.
Bmc Neurology, 2022
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective.
Zhong H et al.
Human Mutation, 2021
A Patient With Late-onset Limb-girdle Muscular Dystrophy Type 2B Mimicking Dermatomyositis: A Case Report and Review.
Kim MJ et al.
Journal of Rheumatic Diseases, 2021
Null variants in DYSF result in earlier symptom onset.
Park HJ et al.
Clinical Genetics, 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
Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report.
Lee SJ et al.
Medicine, 2020
Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.
Mojbafan M et al.
Molecular Genetics & Genomic Medicine, 2019
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J et al.
Molecular Genetics & Genomic Medicine, 2019
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
Dominov JA et al.
Annals of Clinical and Translational Neurology, 2019
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B.
Okubo M et al.
Journal of the Neurological Sciences, 2018
Progress and challenges in diagnosis of dysferlinopathy.
Fanin M et al.
Muscle & Nerve, 2016
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
Jin SQ et al.
Chinese Medical Journal, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Harris E et al.
Neurology. Genetics, 2016
Dysferlinopathy in Iran: Clinical and genetic report.
Fatehi F et al.
Journal of the Neurological Sciences, 2015
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
Izumi R et al.
Neurology. Genetics, 2015
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy.
Shin HY et al.
Neuromuscular Disorders : Nmd, 2015
A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.
Dominov JA et al.
Annals of Clinical and Translational Neurology, 2014
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
Takahashi T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.
Kesari A et al.
The American Journal of Pathology, 2008