A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy
Biomedicines, 2023 Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf gene locus ...
Océane Ballouhey +8 more
doaj +2 more sources
Asymptomatic and oligosymptomatic states of dysferlinopathy [PDF]
Journal of Neuromuscular DiseasesDysferlinopathy is a phenotypically heterogeneous, inherited, progressive muscular dystrophy caused by mutations in the DYSF gene. Dysferlinopathy is marked by elevated serum creatine kinase (CK) and can in some cases manifest as hyperCKemia in asymptomatic or low-symptom states.
Bardakov SN +13 more
exaly +4 more sources
Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy [PDF]
Case Reports in Medicine, 2017 Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting. It is an autosomal recessive disease, with currently 140 mutations in the LGMD2B gene identified.
Svetlana F. Khaiboullina +7 more
doaj +4 more sources
Water T2 could predict functional decline in patients with dysferlinopathy [PDF]
Journal of Cachexia, Sarcopenia and Muscle, 2022 Background Water T2 (T2H2O) mapping is increasingly being used in muscular dystrophies to assess active muscle damage. It has been suggested as a surrogate outcome measure for clinical trials.
Ursula Moore +26 more
doaj +5 more sources
Dysferlinopathy: A Case Report and Literature Update
İstanbul Medical Journal, 2016 Dysferlinopathy is a rare autosomal recessive myopathy, resulting in the lack or absence of dysferlin production caused by mutations in the encoding gene.
Orkide Kutlu +7 more
doaj +2 more sources
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach [PDF]
Frontiers in Neurology, 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.
Anna G. Mayhew +48 more
doaj +2 more sources
Heterogeneous Characteristics of Korean Patients with Dysferlinopathy [PDF]
Journal of Korean Medical Science, 2012 Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 ± 7.34 yr. The serum creatine kinase (CK) was highly increased (4- to 101-fold above normal).
Park, Hyung Jun +7 more
openaire +3 more sources
Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Objective To investigate clinical phenotype and gene mutation of dysferlinopathy. Methods The clinical manifestations, laboratory, imaging, neurophysiological examinations, myopathology and genetic test of 3 patients with dysferlinopathy in 2 Chinese ...
Hui-li ZHANG +7 more
doaj +2 more sources
Comparison of strength testing modalities in dysferlinopathy
Muscle & Nerve, 2022 AbstractIntroduction/AimsDysferlinopathy demonstrates heterogeneity in muscle weakness between patients, which can progress at different rates over time. Changing muscle strength due to disease progression or from an investigational product is associated with changing functional ability.
Natalie F. Reash +19 more
core +5 more sources
Muscle membrane repair and inflammatory attack in dysferlinopathy [PDF]
Skeletal Muscle, 2011 Repair of plasma membrane tears is an important normal physiological process that enables the cells to survive a variety of physiological and pathological membrane lesions.
Han Renzhi
doaj +2 more sources