Results 61 to 70 of about 1,438 (185)
Frontiers in Neurology, 2021 Objective: Dysferlin deficiency causes dysferlinopathy. This study aimed to expand the mutational spectrum of dysferlinopathies, to further study one case with diagnostic ambiguity, and to identify the diagnostic value of dysferlin expression in total ...
Huili Zhang +5 more
doaj +1 more source
Diagnostics, 2020 Limb-girdle muscular dystrophy type R2 dysferin-related (LGMD R2 dysferin-related), a phenotype of dysferlinopathy, usually begins with pelvic girdle weakness.
Du Hwan Kim, Dae-Hyun Jang, Ja-Hyun Jang
doaj +1 more source
, 2022 BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077) +7 more
core +1 more source
, 2022 BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077) +7 more
core +1 more source
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, EarlyView.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy
, 2018 Dysferlinopathy comprises a group of autosomal recessive muscular dystrophies caused by mutations in the DYSF gene. Due to the large size of the gene and its lack of mutational hot spots, analysis of the DYSF gene is time-consuming and laborious using ...
박형준
core +2 more sources
Translational Research and Therapeutic Perspectives in Dysferlinopathies
Molecular Medicine, 2011 Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) and the second most common being LGMD.
Barthelemy, Florian +4 more
openaire +3 more sources
, 2022 BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077) +7 more
core +1 more source
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1154-1159, June 2026.ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller +6 more
wiley +1 more source
An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene
Annals of Clinical and Translational Neurology, 2023 The precise detection and interpretation of pathogenic DYSF variants are sometimes challenging, largely due to rare deep‐intronic splice‐altering variants. Here, we report on the genetic diagnosis of a male patient with dysferlinopathy.
Chengyue Sun +4 more
doaj +1 more source