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

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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Main Authors: 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
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2022-03-01
Series:Global Medical Genetics
Subjects:
capn3
muscular dystrophy
lgmdr1
next-generation sequencing
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1736567

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1736567

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