French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice [PDF]
Orphanet Journal of Rare DiseasesBackground Calpainopathies, including limb-girdle muscular dystrophy recessive type 1 (LGMD R1) and the rare dominant type 4 (LGMD D4), are genetic neuromuscular disorders caused by pathogenic variants in the CAPN3 gene, which encodes calpain-3, a muscle-
Gianmarco Severa +16 more
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Identification and association of the single nucleotide polymorphisms in calpain3 (
BMC Genetics, 2009 Background The aim of this study is to screen single nucleotide polymorphisms (SNP) of chicken Calpain3 (CAPN3) gene and to analyze the potential association between CAPN3 gene polymorphisms and carcass traits in chickens.
Du Hua-Rui +5 more
doaj +3 more sources
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy [PDF]
CellsLimb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about CAPN3’s function in muscle, but its loss results in aberrant sarcomere formation.
Andrea Valls +13 more
doaj +2 more sources
Animal Models and Experimental MedicineCalpainopathy is a rare genetic myopathy without causal treatment available. Recent advances have produced promising treatment strategies, including genetic treatment and immunomodulation, that are currently being tested pre‐clinically in murine models ...
Nicolina Südkamp +12 more
doaj +2 more sources
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations
Case Reports in Neurology, 2018 We report the clinical and genetic analysis of a 63-year-old man with progressive weakness developing over more than 20 years. Prior to his initial visit, he underwent multiple neurological and rheumatological evaluations and was treated for possible ...
Leema Reddy Peddareddygari +2 more
doaj +3 more sources
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
In situ detection of activation of CAPN3, a responsible gene product for LGMDR1, in mouse skeletal myotubes [PDF]
Journal of Biological ChemistryYasuko Ono, Fumiko Shinkai-Ouchi
exaly +2 more sources
Single nucleotide polymorphisms of the ovine calpain 3 (CAPN3) gene
Molecular and Cellular Probes, 2007 Huitong Zhou +2 more
exaly +3 more sources
Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion [PDF]
Neuromuscular Disorders, 2021 Camptocormia is defined by a pathological involuntary flexion of the thoracic and lumbar spine that is fully reducible in the supine position. Although originally described as a manifestation of conversion disorder, it is more commonly caused by a wide range of neurological diseases, in particular movement and neuromuscular disorders.
Spinazzi, Marco +7 more
openaire +3 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