Associated Papers
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.
Khalilian S et al.
Human Genomics, 2025
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
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
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
Izumi R et al.
Neurology. Genetics, 2015
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
Gallardo E et al.
Plos One, 2011
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M et al.
Human Mutation, 2009
Dysferlin expression in monocytes: a source of mRNA for mutation analysis.
De Luna N et al.
Neuromuscular Disorders : Nmd, 2007
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