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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Autores principales: | 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 |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Georg Thieme Verlag KG
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/75ac141fc6ea457c8322411f21a69471 |
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