Results 1 to 10 of about 478 (135)

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   +6 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 ...
Marlena Rohm, Johannes Forsting, Lara Schlaffke   +2 more
exaly   +6 more sources

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy [PDF]

Animal Models and Experimental Medicine
Calpainopathy 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, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
doaj   +3 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 E Becker, Steven A Moore, Karra A Jones   +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   +5 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

Calpainopathy—A Survey of Mutations and Polymorphisms [PDF]

American Journal of Human Genetics, 1999
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects in the human CAPN3 gene, which encodes the skeletal muscle-specific member of the calpain family.
Amets Saenz, Isabelle Richard, Robert Pogue   +2 more
exaly   +5 more sources

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 more
europepmc   +2 more sources

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach [PDF]

Neuromuscular Disorders, 2001
Calpainopathy (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophy. We performed a systematic clinical evaluation in 13 calpainopathy patients from 11 families, with particular attention to the pattern of muscle involvement. Eleven patients had a muscle biopsy with deficiency of calpain 3 on western blotting. The other
Robert Pogue, L V Anderson, L V B Anderson   +2 more
exaly   +4 more sources

Myocardial strain analysis using cardiac magnetic resonance in patients with calpainopathy [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Limb–girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. Subtype 2A (LGMD2A) also known as “calpainopathy” is an inherited autosomal recessive gene defect.
Silvio Quick, Max Winkler, Uwe Speiser, Karim Ibrahim, Jochen Schäfer, Axel Linke, Kun Zhang, Marian Christoph, Felix M. Heidrich   +8 more
doaj   +3 more sources