Results 71 to 80 of about 1,440 (186)
Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy [PDF]
, 2020 © 2017 Svetlana F. Khaiboullina et al. Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting.
Yakovlev I. +7 more
core
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
Table_2_Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.docx [PDF]
, 2022 Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported.
Mori-Yoshimura, Madoka +87 more
core +2 more sources
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
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
NMR in Biomedicine, Volume 39, Issue 6, June 2026.Quantitative MRI of upper limb muscles in DMD patients showed increasing sensitivity to change over time with larger analysis volumes and longer follow‐up. Muscle fat fraction had the highest sensitivity to change and was associated with declining upper limb function, supporting its value as a robust imaging biomarker in DMD. ABSTRACT Duchenne muscular
M. Michaëls +5 more
wiley +1 more source
Dysferlin at transverse tubules regulates Ca2+ homeostasis in skeletal muscle
Frontiers in Physiology, 2014 The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases.
Jaclyn P. Kerr +2 more
doaj +1 more source
Dysferlinopathy: Clinical aspects in India [PDF]
Neurology India, 2008 Mutations in the dysferlin gene on Chromosome 2p cause dysferlinopathies which include two distinct clinical entities, Miyoshi myopathy (MM) (OMIM no. 254130) and limb girdle muscular dystrophy 2B (LGMD2B) (OMIM no. 253601). They have been diagnosed as different diseases clinically depending on the affected muscles at the onset.
Hattori, Hidenori, Suzuki, Norihiro
openaire +1 more source
Physiological Reports, Volume 14, Issue 10, May 2026.The repeated bout effect (RBE) is an adaptive response to a subsequent injury; muscle physiological or pathological state determines the magnitude and trajectory of strength adaptation. Abstract Skeletal muscle exhibits remarkable plasticity following injury, yet most research has focused on responses to a single bout of eccentric contractions.
Cory W. Baumann +3 more
wiley +1 more source
Non-invasive protein analysis in the first dysferlinopathy Croatian families [PDF]
, 2011 Mutations in human dysferlin (DYSF) gene cause both limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), also named dysferlinopathy.
Nina Canki-Klain +2 more
core +1 more source