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

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 included in this study. Consanguinity was present...

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Detalles Bibliográficos
Autores principales: Ganaraja, Valakunja H., Polavarapu, Kiran, Bardhan, Mainak, Preethish-Kumar, Veeramani, Leena, Shingavi, Anjanappa, Ram M., Vengalil, Seena, Nashi, Saraswati, Arunachal, Gautham, Gunasekaran, Swetha, Mohan, Dhaarini, Raju, Sanita, Unnikrishnan, Gopikrishnan, Huddar, Akshata, Ravi-Kiran, Valasani, Thomas, Priya T., Nalini, Atchayaram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2021
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8837411/
https://www.ncbi.nlm.nih.gov/pubmed/35169782
http://dx.doi.org/10.1055/s-0041-1736567

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8837411/
https://www.ncbi.nlm.nih.gov/pubmed/35169782
http://dx.doi.org/10.1055/s-0041-1736567

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