Results 41 to 50 of about 713 (148)

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

Novel CAPN3 variant associated with an autosomal dominant calpainopathy [PDF]

Neuropathology and Applied Neurobiology, 2020
AimsThe most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged by the description of the recurrent variants, c.643_663del21 [p.(Ser215_Gly221del)] and c.598_612del15 [p.(Phe200_Leu204del)], associated with autosomal dominant ...
M. Cerino, E. Campana‐Salort, A. Salvi, P. Cintas, D. Renard, R. Juntas Morales, C. Tard, F. Leturcq, T. Stojkovic, N. Bonello‐Palot, S. Gorokhova, J. Mortreux, A. Maues De Paula, N. Lévy, J. Pouget, M. Cossée, M. Bartoli, M. Krahn, S. Attarian   +18 more
openaire   +3 more sources

Dermatoglyphic traits in Calpainopathy: A Case Report [PDF]

, 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

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

Limb-girdle muscular dystrophies in India: A review

Annals of Indian Academy of Neurology, 2017
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies.
Satish V Khadilkar, Hinaben Dayalal Faldu, Sarika Bapuso Patil, Rakesh Singh   +3 more
doaj   +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

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

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   +1 more source