Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome [PDF]
Case Reports in MedicineAdult-onset Gitelman syndrome with calpainopathy is a rare clinical condition in patients with diabetes mellitus. We present the case of a 52-year-old male diabetic patient who presented with muscle weakness and fatigue.
Gerry George Mathew +2 more
exaly +7 more sources
Quantitative muscle MRI captures early muscle degeneration in calpainopathy [PDF]
Scientific Reports, 2022 To evaluate differences in qMRI parameters of muscle diffusion tensor imaging (mDTI), fat-fraction (FF) and water T2 time in leg muscles of calpainopathy patients (LGMD R1/D4) compared to healthy controls, to correlate those findings to clinical ...
Johannes Forsting +2 more
exaly +9 more sources
Modelling energy metabolism dysregulations in neuromuscular diseases: A case study of calpainopathy [PDF]
HeliyonBiological modelling helps understanding complex processes, like energy metabolism, by predicting pathway compensations and equilibrium under given conditions.
Camille Siharath +2 more
doaj +6 more sources
Age, muscle, and gender specific characterization of muscle degeneration in a mouse model of calpainopathy [PDF]
Scientific ReportsEstablishing well-described mouse models of hereditary diseases is increasingly important for testing new therapeutic approaches, such as gene replacement therapy.
Nicolina Südkamp +11 more
doaj +4 more sources
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies [PDF]
Acta Neuropathologica Communications, 2022 The descriptions of muscle pathology in dysferlinopathy patients have classically included an inflammatory infiltrate that can mimic inflammatory myopathies.
Nicole Becker +2 more
exaly +3 more sources
Case report: A single novel calpain 3 gene variant associated with mild myopathy [PDF]
Frontiers in GeneticsRecessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described.
Sara Massucco +20 more
doaj +5 more sources
Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping [PDF]
GenesPurpose: An investigation for the co-occurrence of two unrelated genetic disorders of muscular dystrophy and Prader-Willi syndrome (PWS) (OMIM#176270) using joint whole genome sequencing (WGS).
Mario Ćuk +2 more
exaly +3 more sources
The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion [PDF]
Advances in Psychiatry and NeurologyJosef Finsterer
doaj +3 more sources
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
doaj +2 more sources
Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review [PDF]
Arquivos de Neuro-Psiquiatria, 2023 Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes ...
Paulo José Lorenzoni +8 more
doaj +2 more sources