Zobrazeno 1 - 10
of 281
pro vyhledávání: '"CAPN3"'
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Limb-girdle muscular dystrophy type 2A (LGMD R1 Calpain 3-Related, LGMD2A/R1), an autosomal recessive disorder, is characterized by progressive muscle weakness with a prominent presentation in the proximal limb girdle muscles. LGMD2A/R1, which is cau
Externí odkaz:
https://doaj.org/article/45100f3e2cd3440fae425f954f405519
Publikováno v:
Journal of Genetic Engineering and Biotechnology, Vol 21, Iss 1, Pp 1-6 (2023)
Abstract Background Sheep is one of the commodities of livestock which has been known widely in Indonesia for supporting the national food security. Improvement in genetic quality by selection based on genetic markers for growth is necessary to incre
Externí odkaz:
https://doaj.org/article/beb5f8189d4b4f869824c76bab5ae492
Autor:
Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo
Publikováno v:
Cells, Vol 13, Iss 4, p 329 (2024)
Objective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and dystr
Externí odkaz:
https://doaj.org/article/2885ad79e6d1491eb0ea11c7ce31409b
Akademický článek
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Akademický článek
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Autor:
Nam Chung Tran, Nguyen Thi Kim Lien, Thanh Dat Ta, Van Hung Nguyen, Huy Thinh Tran, Nguyen Van Tung, Nguyen Thi Xuan, Nguyen Huy Hoang, Van Khanh Tran
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Limb-girdle muscular dystrophy (LGMD) is a group of inherited neuromuscular disorders characterized by atrophy and weakness in the shoulders and hips. Over 30 subtypes have been described in five dominant (LGMD type 1 or LGMDD) and 27 rec
Externí odkaz:
https://doaj.org/article/fd6fe81c66bc4b39a302cf13a0717f01
Autor:
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
Publikováno v:
Global Medical Genetics, Vol 09, Iss 01, Pp 034-041 (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
Externí odkaz:
https://doaj.org/article/75ac141fc6ea457c8322411f21a69471
Autor:
Evelina Siavrienė, Gunda Petraitytė, Birutė Burnytė, Aušra Morkūnienė, Violeta Mikštienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
Publikováno v:
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-8 (2021)
Abstract 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
Externí odkaz:
https://doaj.org/article/9fa109b82e7f4d818b1ad473453435d8
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 15, Iss 3, Pp 85-91 (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). An autosoma
Externí odkaz:
https://doaj.org/article/eac3f5daff8643a3b8e7de4daae883e1
Autor:
Yu.H. Antipkin, L.H. Kyrylova, O.O. Miroshnykov, O.O. Yuzva, V.V. Orzheshkovskyi, A.F. Nechay
Publikováno v:
Medičnì Perspektivi, Vol 26, Iss 3, Pp 212-218 (2021)
The paper reports on two cases of young women from Ukraine with autosomal recessive limb-girdle muscular dystrophy type 2A with different age of symptoms onset and an absence of any family history presented with gradual onset of proximal muscle weakn
Externí odkaz:
https://doaj.org/article/45edadc3fc9b4b01bd3fae4441379f00