Results 51 to 60 of about 607 (153)

Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene

Annals of Indian Academy of Neurology, 2016
Background and Purpose: Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis.
Satish V Khadilkar, Chetan R Chaudhari, Rashna S Dastur, Pradnya S Gaitonde, Jayendra G Yadav   +4 more
doaj   +1 more source

Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families [PDF]

, 2022
[Aims] Recessive variants in CAPN3 gene are the cause of the commonest form of autosomal recessive limb girdle muscle dystrophy. However, two distinct in-frame deletions in CAPN3 (NM_000070.3:c.643_663del21 and c.598_621del15) and more recently ...
Sánchez, A., Ravenscroft, Gianina, Domínguez‐González, Cristina, Olivé, Montse, Soltanzadeh, P., Navas, C., Evesson, F., Cabrera-Serrano, Macarena, Clayton, J., Arteche-López, A., Spencer, M., Reardon, K., Mavillard, Fabiola, Rodrigo, P., Cooper, S. T., Paradas, Carmen, Laing, Nigel G., Servián Morilla, E., Esteban Pérez, Jesús, Rivas Infante, Eloy, González-Mera, Laura, Corbett, A., Ermolova, N., Waddell, L., Hernández-Laín, Aurelio   +24 more
core   +1 more source

Left ventricular deformation abnormalities in a patient with calpainopathy-a case from the three-dimensional speckle-tracking echocardiographic magyar-path study [PDF]

, 2017
Calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophies. The disease is caused by mutations in the CAPN3 gene encoding calpain, a protein involved in muscle membrane
Vécsei László, Kalapos Anita, Dézsi Livia, Nemes Attila, Domsik Péter, Forster Tamás   +5 more
core   +1 more source

Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect

Orphanet Journal of Rare Diseases, 2020
Background Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especially in populations with high ...
Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi, Sirous Zeinali   +4 more
doaj   +1 more source

Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types

Frontiers in Neurology, 2021
We present a patient who had two allogeneic bone marrow transplantations for acute lymphocytic leukemia. She developed slowly progressive limb-girdle weakness in the context of other symptoms of graft-vs.-host disease (GVHD).
Kristina Martens, Jamie Leckie, Daniel Fok, Robyn A. Wells, Sameer Chhibber, Gerald Pfeffer, Gerald Pfeffer   +6 more
doaj   +1 more source

Dermatoglyphic traits in Calpainopathy: A Case Report

, 2022
Calpainopathy is a Limb Girdle Muscular Dystrophy due to calpain deficiency caused by genetic mutations in CAPN 3 gene. It results in progressive, symmetrical weakness of proximal muscles.
Dutt, Marisha, Kaul, Shivanee M., Agarwal, Somya, Malhan, Sheetal   +3 more
core   +1 more source

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report

BMC Musculoskeletal Disorders, 2021
Background Autosomal recessive limb–girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. Homozygous or compound heterozygous variants in the CAPN3 gene
Evelina Siavrienė, Gunda Petraitytė, Birutė Burnytė, Aušra Morkūnienė, Violeta Mikštienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė   +8 more
doaj   +1 more source

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia

Frontiers in Neuroscience, 2022
BackgroundTo characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy.MethodsA descriptive observational study was done on a cohort of 112 Saudi Arabian families ...
Norah Alharbi, Rawan Matar, Edward Cupler, Hindi Al-Hindi, Hatem Murad, Iftteah Alhomud, Dorota Monies, Ali Alshehri, Mossaed Alyahya, Brian Meyer, Saeed Bohlega   +10 more
doaj   +1 more source

Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report

BMC Medical Genetics, 2020
Background Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1.
Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinali   +5 more
doaj   +1 more source

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Arquivos de Neuro-Psiquiatria, 2014
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function ...
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Júlia Filardi Paim, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier Neto, Reinaldo Issao Takata, Antonio Pedro Vargas   +10 more
doaj   +1 more source