Results 91 to 100 of about 1,730 (187)
Non-invasive protein analysis in the first dysferlinopathy Croatian families
, 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
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BiomoleculesDysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This
Saeed Anwar, Toshifumi Yokota
doaj +1 more source
, 2017 Dysferlinopathy, caused by a dysferlin gene mutation, is a clinically heterogeneous autosomal recessive muscle disease characterized by progressive muscle degeneration.
Cali-Daylan, Ayse Ece, Dincer, Pervin
core +1 more source
Metabolic dysregulation contributes to the development of dysferlinopathy
Life Science AllianceDysferlin is a transmembrane protein that plays a prominent role in membrane repair of damaged muscle fibers. Accordingly, mutations in the dysferlin gene cause progressive muscular dystrophies, collectively referred to as dysferlinopathies for which no effective treatment exists. Unexpectedly, experimental approaches that successfully restore membrane
Regula Furrer +7 more
openaire +2 more sources
MusclesNeuromuscular electrical stimulation (NMES) is integral to studying muscle function in healthy and dystrophic mice. Certain commercial electrodes and laboratory stimulators used for NMES in mice are no longer in production. We developed and/or tested low-
Bana H. Odeh +10 more
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Phenotypic Drug Screening for Dysferlinopathy Using Patient‐Derived Induced Pluripotent Stem Cells
Stem Cells Translational Medicine, 2019 Dysferlinopathy is a progressive muscle disorder that includes limb‐girdle muscular dystrophy type 2B and Miyoshi myopathy (MM). It is caused by mutations in the dysferlin (DYSF) gene, whose function is to reseal the muscular membrane.
Yuko Kokubu +9 more
doaj +1 more source
Limb-girdle muscular dystrophies in India: A review
Annals of Indian Academy of Neurology, 2017 Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies.
Satish V Khadilkar +3 more
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Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue
Indian Journal of Pathology and Microbiology, 2011 Background: Dysferlinopathy is an autosomal recessive-limb girdle muscular dystrophy (AR-LGMD) caused due to the defect in gene encoding dysferlin, a sarcolemmal protein.
N Gayathri +6 more
doaj +1 more source
Two cases with dysferlinopathy
Türk Nöroloji Dergisi, 2011 Dysferlinopathy includes a rare spectrum of muscle disease characterized by two main phenotypes: Miyoshi myopathy(MM) and Limb Girdle muscular dystrophy(LGMD 2B) and results from a mutation of the gene that codes dysferline protein (DYSF gene, 2p13). In this report, we present 2 cases with dysferlinopathy whose diagnosis were confirmed by clinical and ...
Gaye Eryaşar +5 more
openaire +2 more sources