Results 1 to 10 of about 397 (90)

Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome [PDF]

Case Reports in Medicine
Adult-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.
Varadharajan Jayaprakash, Madhavan K, Gerry George   +2 more
exaly   +3 more sources

Age, muscle, and gender specific characterization of muscle degeneration in a mouse model of calpainopathy [PDF]

Scientific Reports
Establishing well-described mouse models of hereditary diseases is increasingly important for testing new therapeutic approaches, such as gene replacement therapy.
Matthias Vorgerd, Theiss Carsten, Güttsches Anne-Katrin   +2 more
exaly   +3 more sources

Modelling energy metabolism dysregulations in neuromuscular diseases: A case study of calpainopathy [PDF]

Heliyon
Biological modelling helps understanding complex processes, like energy metabolism, by predicting pathway compensations and equilibrium under given conditions.
Camille Siharath, Olivier Biondi, Sabine Peres   +2 more
doaj   +2 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, Marlena Rohm, Martijn Froeling, Anne-Katrin Güttsches, Nicolina Südkamp, Andreas Roos, Matthias Vorgerd, Lara Schlaffke, Robert Rehmann   +8 more
doaj   +2 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, Steven A. Moore, Karra A. Jones   +2 more
doaj   +2 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 Diseases
Background 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, Sarah Souvannanorath, Iman Tahiri, Christophe Alimi, Abderhmane Slioui, Luisa Villa, Emmanuelle Salort-Campana, France Leturcq, Nathalie Streichenberger, Martin Krahn, Guilhem Solé, Léonard Feasson, Aleksandra Nadaj-Pakleza, Celine Tard, Tanya Stojkovic, Sabrina Sacconi, Edoardo Malfatti   +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, Cláudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Nyvia Milicio Coblinski Hrysay, Raquel Cristina Arndt, Lineu Cesar Werneck, Rosana Herminia Scola   +8 more
doaj   +2 more sources

Case report: A single novel calpain 3 gene variant associated with mild myopathy [PDF]

Frontiers in Genetics
Recessively 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, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, Marina Grandis, Marina Grandis   +20 more
doaj   +2 more sources

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region [PDF]

Italian Journal of Pediatrics
Background Limb Girdle Muscular Dystrophy (LGMD) is a heterogeneous group of muscle diseases that are common in childhood. This study aimed to determine the clinical, histopathological, genetic features characteristics of among pediatric patients with ...
Duygu Güner Özcanyüz, Gülen GüL Mert, Neslihan Özcan, Serap Bilge, Faruk İncecik, Suzan Zorludemir, Sevcan Tuğ Bozdoğan, Mihriban Özlem Hergüner   +7 more
doaj   +2 more sources

Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent [PDF]

Annals of Indian Academy of Neurology
Background and Objectives: Diagnosing myopathy subtypes is challenging due to clinical and genetic heterogeneity. While muscle magnetic resonance imaging (MRI) enables pattern recognition, standardized imaging data from India are lacking.
Shariq Ahmad Shah, Venugopalan Y Vishnu, Leve Joseph Devaranjan Sebastian, Ajay Garg   +3 more
doaj   +2 more sources