Results 41 to 50 of about 607 (153)
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
Calpainopathy and eosinophilic myositis
Annals of Neurology, 2006 Robert H. Brown, Anthony Amato
core +2 more sources
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
Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]
Mol Genet Genomic MedTargeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Rahmuni Y +9 more
europepmc +2 more sources
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
openaire +5 more sources
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies
Annals of Clinical and Translational Neurology, Volume 10, Issue 11, Page 2092-2104, November 2023., 2023 Abstract Objective Clinical and genetic heterogeneities make diagnosis of limb‐girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequence‐based multi‐gene panel (“The Lantern Focused Neuromuscular Panel”) to detect both sequence variants and
Babi R. R. Nallamilli +8 more
wiley +1 more source
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9. [PDF]
Ann Clin Transl NeurolABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Miller CL +6 more
europepmc +2 more sources
Novel CAPN3 variant associated with an autosomal dominant calpainopathy [PDF]
Neuropathology and Applied Neurobiology, 2020 AimsThe most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged by the description of the recurrent variants, c.643_663del21 [p.(Ser215_Gly221del)] and c.598_612del15 [p.(Phe200_Leu204del)], associated with autosomal dominant ...
M. Cerino +18 more
openaire +3 more sources