Article

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

2020-09-18

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Objective</h4> Inherited myopathies comprise more than 200 different individually rare disease-subtypes but when combined together have a high prevalence of 1 in 6000 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. <h4>Methods</h4> In this cohort-s...

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Literature Corpus work: 1530982d-aca8-5d8f-ae4a-f5dd3834e886
DOI: 10.1101/2020.09.15.20193425

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