Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants [PDF]
Frontiers in Molecular BiosciencesIntroductionPompe 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 +41 more
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MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]
IUBMB LifeABSTRACT 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 +7 more
europepmc +2 more sources
Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods [PDF]
Journal of Neuromuscular DiseasesSergey N Bardakov +2 more
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 NeurologyWiktoria Radziwonik-Frączyk +2 more
doaj +2 more sources
Author Correction: Quantitative muscle MRI captures early muscle degeneration in calpainopathy [PDF]
Scientific ReportsJohannes Forsting +8 more
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Response to: Calpainopathy Can Manifest Itself in Not Only Skeletal Muscle but Also the Brain and Myocardium [PDF]
Internal MedicineAkatsuki Kubota +2 more
exaly +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
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Анналы клинической и экспериментальной неврологии, 2021 Introduction. Limb-girdle muscular dystrophy (LGMD) includes more than 30 forms caused by mutations in genes located on autosomes. The most common form is calpain-3-related LGMD, with autosomal recessive inheritance pattern (OMIM 253600).
Inna V. Sharkova +4 more
doaj +1 more source
Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1
Molecular Therapy: Methods & Clinical Development, 2021 Limb girdle muscular dystrophy (LGMD) 2A/R1, caused by mutations in the CAPN3 gene and CAPN3 loss of function, is known to play a role in disease pathogenicity.
Zarife Sahenk +8 more
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