Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent

Objective: Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals across the world. Our goal was to determine for the first time the clinical- and gene-variant spectrum of genetic myop...

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Bibliographic Details
Main Authors: Samya Chakravorty, Babi Ramesh Reddy Nallamilli, Satish Vasant Khadilkar, Madhu Bala Singla, Ashish Bhutada, Rashna Dastur, Pradnya Satish Gaitonde, Laura E Rufibach, Logan Gloster, Madhuri Hegde
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Neurology
Subjects:
inherited myopathies
LGMD
exome sequencing
next generation sequencing
molecular diagnostics
India
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2020.559327/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2020.559327/full

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