Results 11 to 20 of about 466 (135)

Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy [PDF]

Case Reports in Neurological Medicine
Rhabdomyolysis, an emergency medical condition linked to muscle necrosis and intracellular substances released into the bloodstream, significantly endangers military personnel in heat-stress conditions.
Sethapong Lertsakulbunlue, Boonsub Sakboonyarat, Piradee Suwanpakdee, Boonchai Boonyawat   +3 more
doaj   +3 more sources

A rare case of late‐onset limb‐girdle muscular dystrophy: Calpainopathy [PDF]

Aging Medicine, 2022
Limb-girdle muscular dystrophy is a genetic disorder usually presenting in younger age patients. This case report presents a case of late-onset limb-girdle muscular dystrophy type R1 (Calpainopathy) in a 65 year old patient.
Bhawana Painkra, Richa Mallick, Sumanta Das, Pramod Kumar, Prasun Chatterjee   +4 more
doaj   +4 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

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   +2 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

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India [PDF]

Global Medical Genetics, 2022
Calpainopathy is caused by mutations in the CAPN3. There is only one clinical and genetic study of CAPN3 from India and none from South India. A total of 72 (male[M]:female [F] = 34:38) genetically confirmed probands from 72 independent families are ...
Valakunja H. Ganaraja, Kiran Polavarapu, Mainak Bardhan, Veeramani Preethish-Kumar, Shingavi Leena, Ram M. Anjanappa, Seena Vengalil, Saraswati Nashi, Gautham Arunachal, Swetha Gunasekaran, Dhaarini Mohan, Sanita Raju, Gopikrishnan Unnikrishnan, Akshata Huddar, Valasani Ravi-Kiran, Priya T. Thomas, Atchayaram Nalini   +16 more
doaj   +2 more sources

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants [PDF]

Frontiers in Molecular Biosciences
IntroductionPompe disease (PD) is a rare inherited recessive autosomal disorder caused by pathogenic nucleotide variants within the gene GAA, encoding Acid alpha-glucosidase (GAA), the lysosomal enzyme catalyzing glycogen breakdown to glucose.MethodsWe ...
Aleksander Pushkov, Daria Chudakova, Ilya Zhanin, Sergey Nikitin, Elena Basargina, Lydmila Kuzenkova, Daria Andreeva, Maria Vasil’eva, Sergey Vasichkin, Albina Gabitova, Elena Gaisina, Elena Saifullina, Amina Gamzatova, Olga Gilvanova, Vyacheslav Dudin, Olga Ergina, Sergey Kurbatov, Elena Noskova, Elena Osipova, Olga Tihonova, Ekaterina Fedotova, Evgeny Nuzhny, Viktoria Chernikova, Anastasia Yamshchikova, Lubov Kyzina, Natalia Irinina, Olga Rohlenko, Yulia Kutkova, Natalia Popkova, Alsy Ahunova, Alina Alexeeva, Natalia Mazanova, Nataliya Sdvigova, Leyla Gandaeva, Olga Zharova, Tatyana Podkletnova, Alexey Sukhozhenko, Anastasia Rusakova, Dmitry Demianov, Aleksandr Pakhomov, Andrey Fisenko, Kirill Savostyanov   +41 more
doaj   +2 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 Neurology
Josef Finsterer
doaj   +2 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

Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency. [PDF]

Hum Mutat
Abstract: Limb–girdle muscular dystrophy Type 2A/R1 or calpain‐3 deficiency is the most common autosomal recessive limb–girdle muscular dystrophy. However, in recent years, autosomal dominant cases and families with calpain‐3 deficiency have been reported, and there is an emerging interest in looking for single variants in the calpain‐3 gene in mildly ...
Krag T, Nasho E, Brady L, Verebi C, Leturcq F, Malfatti E, Duno M, Tarnopolsky M, Vissing J.   +8 more
europepmc   +2 more sources

Response to: Calpainopathy Can Manifest Itself in Not Only Skeletal Muscle but Also the Brain and Myocardium [PDF]

Internal Medicine
Ichizo Nishino, Tatsushi Toda, Takashi Matsukawa   +2 more
exaly   +2 more sources