Results 21 to 30 of about 466 (135)
Author Correction: Quantitative muscle MRI captures early muscle degeneration in calpainopathy [PDF]
Scientific ReportsJohannes Forsting +8 more
doaj +2 more sources
Reply to the Letter to the Editor on “The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion” [1] [PDF]
Advances in Psychiatry and NeurologyWiktoria Radziwonik-Frączyk +2 more
doaj +2 more sources
Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping [PDF]
GenesBüsra Ünal +2 more
exaly +2 more sources
Epidemiology and genetics of calpainopathy in Croatia
Revue Neurologique, 2004 A 3-year long pilot study concerning aetiology and epidemiology of muscular dystrophy in Croatia had showed that calpainopathy (LGMD2A) was the prevalent autosomal recessive muscular dystrophy in Croatia. Analysis of 50 chromosomes for five CAPN3 mutations (550delA, DFWSAL, R541W, Y357X and R49H) combined with a specific clinical diagnostic strategy ...
Milić, Astrid, Canki-Klain, Nina
+11 more sources
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
openaire +3 more sources