Results 21 to 30 of about 713 (148)

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   +2 more sources

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Targeted 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, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +2 more sources

Generation of induced pluripotent stem cell lines from three LGMD R1 patients carrying CAPN3 hypomorphic intronic variant c.1746-20C > G [PDF]

Stem Cell Research
Calpainopathy is a progressive autosomal recessive limb girdle muscular dystrophy (LGMD R1) caused by variants in the calpain 3 (CAPN3) gene. We have shown that the hypomorphic intronic mutation c.1746-20C > G, which is common in Latvia (MAF 0.237 ...
Karina Goluba, Vadims Parfejevs, Anastasija Neimane, Anastasija Tvoronovica, Baiba Lace, Mehrnaz Ghazvini, Inna Inashkina, Una Riekstina   +7 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

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

Aging Medicine, 2022
Bhawana Painkra, Richa Mallick, Sumanta Das, Pramod Kumar, Prasun Chatterjee   +4 more
doaj   +2 more sources

Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods [PDF]

Journal of Neuromuscular Diseases
Artur Isaev, Ivan Yakovlev, Roman Deev
exaly   +2 more sources

Reply to the Letter to the Editor on “The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion” [1] [PDF]

Advances in Psychiatry and Neurology
Wiktoria Radziwonik-Frączyk, Anna Sułek, Ewelina Elert-Dobkowska   +2 more
doaj   +2 more sources

Epidemiology and genetics of calpainopathy in Croatia

Revue Neurologique, 2004
A 3-year long pilot study concerning aetiology and epidemiology of muscular dystrophy in Croatia had showed that calpainopathy (LGMD2A) was the prevalent autosomal recessive muscular dystrophy in Croatia. Analysis of 50 chromosomes for five CAPN3 mutations (550delA, DFWSAL, R541W, Y357X and R49H) combined with a specific clinical diagnostic strategy ...
Milić, Astrid, Canki-Klain, Nina
  +11 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