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

ABSTRACT: 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 myopathies in a substantial cohort study of the Indian subcontinent. Methods: In this cohort study, we performed the first large clinical exome sequencing (ES) study with phenotype correlation on 207 clinically well-characterized inherited myopathy-suspected patients from the Indian subcontinent with diverse ethnicities. Results: Clinical-correlation driven definitive molecular diagnosis was established in 49% (101 cases; 95% CI, 42-56%) of patients with the major contributing p

SUBMITTER: Chakravorty S 

PROVIDER: S-EPMC7674836 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature