Associated Papers
Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.
Rufibach L et al.
Journal of Personalized Medicine, 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
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
Cacciottolo M et al.
European Journal of Human Genetics : Ejhg, 2011
Novel diagnostic features of dysferlinopathies.
Rosales XQ et al.
Muscle & Nerve, 2010
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M et al.
Human Mutation, 2009
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