Zobrazeno 1 - 10
of 78
pro vyhledávání: '"LGMDR1"'
Autor:
Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, Marina Grandis
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was re
Externí odkaz:
https://doaj.org/article/49be178eb8364e9aad2b067534cfd3e5
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Limb Girdle Muscular Dystrophy R1 (LGMDR1) is an autosomal recessive neuromuscular disease caused by mutations in the calpain-3 (CAPN3) gene. As clinical and pathological features may overlap with other types of LGMD, therefore de
Externí odkaz:
https://doaj.org/article/2b2df9d3e71a4e5ca52ae30b6b3f5458
Autor:
Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui, Mónica Zufiria, Oihane Jaka, Adolfo López de Munain, Amets Sáenz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)
Abstract Background Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy due to mutations in the CAPN3 gene. While the pathophysiology of this disease has not been clearly established yet, Wnt and
Externí odkaz:
https://doaj.org/article/c98a543474c243b18fb6ae233988a467
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
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:
Pathophysiology, Vol 28, Iss 2, Pp 238-249 (2021)
Limb girdle muscular dystrophy type R1 disease is a progressive disease that is caused by mutations in the CAPN3 gene and involves the extremity muscles of the hip and shoulder girdle. The CAPN3 protein has proteolytic and non-proteolytic properties.
Externí odkaz:
https://doaj.org/article/5c2b0550356a4973a334237ee52338e6
Autor:
Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo López de Munain, Rik J. Lories, Amets Sáenz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-18 (2020)
Abstract Background Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degeneration. Frizzled re
Externí odkaz:
https://doaj.org/article/5f3946e625b847ba8cc43717179513b4
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.