medRxiv preprint doi: https://doi.org/10.1101/2020.09.15.20193425; this version posted September 18, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license . Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent 1 Samya Chakravorty1, 2, 3, 4, *, Babi Ramesh Reddy Nallamilli5, Satish Khadilkar6, 7, 8, 2 Madhubala Singla6, 7, 8, Ashish Bhutada6, Rashna Dastur9, Pradnya Gaitonde9, Laura 3 Rufibach10, Logan Gloster1, 4, Madhuri Hegde4, 5,* 4 5 1 Emory University Department of Pediatrics, Atlanta, GA, USA 6 2 Emory University Department of Human Genetics, Atlanta, GA, USA 7 3 Division of Neurosciences, Children’s Healthcare of Atlanta, GA, USA 8 4 School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA 9 5 PerkinElmer Genomics, Global Laboratory Services, Waltham, MA, USA. 10 6 Department of Neurology, Bombay Hospital, Mumbai, Maharashtra, India 11 7 Department of Neurology, Sir J J Group of Hospitals, Grant Medical College, Mumbai, 12 Maharashtra, India 13 8 Bombay Hospital Institute of Medical Sciences, Mumbai, Maharashtra, India 14 9 Centre for Advanced Molecular Diagnostics in Neuromuscular Disorders (CAMDND) Mumbai, 15 Maharashtra, India 16 10 Jain Foundation, Seattle, WA, USA 98115 17 18 19 * Correspondence: 20 21 Samya Chakravorty 22
[email protected] 23 24 Madhuri Hegde 25
[email protected] 26 27 Lead Contact: Samya Chakravorty (
[email protected]) 28 29 Manuscript word count: 5507, Number of Figures: 3, Number of Tables: 6 30 31 Keywords: Inherited Myopathies, LGMD, Exome Sequencing, Next Generation Sequencing, 32 Molecular Diagnostics, India 33 NOTE: This preprint reports new research that has not been certified by peer review and should not be used to guide clinical practice.