Results 31 to 40 of about 805 (150)
Biomedicines, 2022 Sarcoglycanopathies are a group of recessive limb-girdle muscular dystrophies, characterized by progressive muscle weakness. Sarcoglycan deficiency produces instability of the sarcolemma during muscle contraction, leading to continuous muscle fiber ...
Jorge Alonso-Pérez +11 more
doaj +1 more source
The P2X7 purinoceptor in pathogenesis and treatment of dystrophino- and sarcoglycanopathies [PDF]
Current Opinion in Pharmacology, 2023 Dystrophinopathy and sarcoglycanopathies are incurable diseases caused by mutations in the genes encoding dystrophin or members of the dystrophin associated protein complex (DAPC). Restoration of the missing dystrophin or sarcoglycans via genetic approaches is complicated by the downsides of personalised medicines and immune responses against re ...
Dariusz C. Gόrecki, Robin M.H. Rumney
openaire +3 more sources
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
doaj +1 more source
Different outcome of sarcoglycan missense mutation between human and mouse. [PDF]
PLoS ONE, 2018 Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, β, δ, and γ-sarcoglycans).
Sara F Henriques +6 more
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 2014 Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular dystrophies, involving 16 autosomal recessive subtypes and eight autosomal dominant subtypes.
Marco A. Veloso Albuquerque
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2019 Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycans. Sarcoglycans form a complex, which is an important part of the dystrophin-associated glycoprotein complex and which ...
David Israeli +8 more
doaj +1 more source
Preliminary pharmacological study on C17 CFTR corrector related to sarcoglycanopathies
, 2023 reservedSarcoglycanopathies are rare autosomal recessive pathologies, a subtype of the Limb-Girdle Muscular Dystrophies (LGMDs), a subfamily of a large group called muscular dystrophy (MD). The sarcoglycanopathies are caused by mutations in sarcoglycans,
PAROLIN, ALESSANDRO
core
Brain Sciences, 2015 Dystrophin-glycoprotein complex (DGC) is an important structural unit in skeletal muscle that connects the cytoskeleton (f-actin) of a muscle fiber to the extracellular matrix (ECM).
Bailey Nichols +2 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
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent
Frontiers in Neurology, 2020 Objective: Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals across the world.
Samya Chakravorty +18 more
doaj +1 more source