Results 31 to 40 of about 713 (148)
Анналы клинической и экспериментальной неврологии, 2021 Introduction. Limb-girdle muscular dystrophy (LGMD) includes more than 30 forms caused by mutations in genes located on autosomes. The most common form is calpain-3-related LGMD, with autosomal recessive inheritance pattern (OMIM 253600).
Inna V. Sharkova +4 more
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Author Correction: Quantitative muscle MRI captures early muscle degeneration in calpainopathy [PDF]
Scientific ReportsJohannes Forsting +8 more
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Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1
Molecular Therapy: Methods & Clinical Development, 2021 Limb girdle muscular dystrophy (LGMD) 2A/R1, caused by mutations in the CAPN3 gene and CAPN3 loss of function, is known to play a role in disease pathogenicity.
Zarife Sahenk +8 more
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Indian Journal of Rheumatology, 2021 Proximal muscle weakness in children, as well as adults, can be the presenting feature of a wide range of diseases including but not limited to the idiopathic inflammatory myopathies, muscle dystrophies, metabolic, endocrine, and drug-induced myopathies.
Sujata Ganguly +3 more
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Pathophysiology, 2021 Limb girdle muscular dystrophy type R1 disease is a progressive disease that is caused by mutations in the CAPN3 gene and involves the extremity muscles of the hip and shoulder girdle. The CAPN3 protein has proteolytic and non-proteolytic properties. The
İzem Olcay Şahin +2 more
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Biology Open, 2020 Calpain-3 (CAPN3) is a muscle-specific type of calpain whose protease activity is triggered by Ca2+. Here, we developed CAPN3 sensor probes (SPs) to detect activated-CAPN3 using a fluorescence/Förster resonance energy transfer (FRET) technique.
Koichi Ojima +6 more
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Calpainopathy presenting as foot drop in a 41 year old
Mutations in the gene encoding muscle-specific calpain 3 protease cause limb girdle muscular dystrophy type 2A. Calpainopathy is characterised by progressive symmetrical atrophy of pelvic, scapular and trunk muscles with an elevated creatine kinase. Most
Bushby K +7 more
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Clinical variability in calpainopathy: What makes the difference? [PDF]
European Journal of Human Genetics, 2002 Limb girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic disorders characterised by progressive weakness of the pelvic and shoulder girdle muscles and a great variability in clinical course. LGMD2A, the most prevalent form of LGMD, is caused by mutations in the calpain-3 gene (CAPN-3).
DE PAULA F +7 more
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Calpainopathy with macrophage-rich, regional inflammatory infiltrates [PDF]
Neuromuscular Disorders, 2017 Mutations in calpain-3 cause limb girdle muscular dystrophy 2A. Biopsy pathology is typically dystrophic, sometimes characterized by frequent lobulated fibres. More recently calpain mutations have been shown in association with eosinophilic myositis, suggesting that calpain mutations may render muscle susceptible to inflammatory change.
Schutz PW +5 more
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Frontiers in Neurology, 2019 The diagnosis of LGMD2A (calpainopathy) can be challenging due to genetic heterogeneity and to high similarity with other LGMDs or neuromuscular disorders. In this setting, NGS panels are highly recommended to perform differential diagnosis, identify new
Claudia Strafella +19 more
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