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
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
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
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.
Tominaga K et al.
Iscience, 2022
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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
Jin SQ et al.
Chinese Medical Journal, 2016
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
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
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