{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:49:20Z","timestamp":1787014160877,"version":"build-2736575974"},"reference-count":51,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,11,26]],"date-time":"2020-11-26T00:00:00Z","timestamp":1606348800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:sec>\n                    <jats:title>Background and purpose<\/jats:title>\n                    <jats:p>Congenital muscular dystrophies (CMDs) and congenital myopathies (CMs) are a group of genetically and clinically heterogeneous degenerative primary muscle disorders with onset at birth or during infancy. Due to vast heterogeneity, clinical examination and protein\u2010based analyses often fail to identify the genetic causes of these diseases. The aim of this study was to genetically diagnose a cohort of 36 difficult\u2010to\u2010diagnose CMD and CM cases of Indian origin using next\u2010generation sequencing methods.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Whole\u2010exome sequencing (WES) was performed to identify pathogenic mutations in previously reported CMD and CM\u2010related genes using variant calling and stringent variant filtration process. Subsequently,\n                      <jats:italic>in silico<\/jats:italic>\n                      homology modelling and molecular dynamics simulations (MDS) studies were undertaken for a number of novel and missense variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 33 and 21 rare and deleterious mutations were identified in 28 genes previously reported in CMD and CM based on OMIM, ClinVar and Orphanet, respectively. We could accurately diagnose 54% patients (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a012\/22) in the CMD group and 35% patients (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a05\/14) in the CM group. Furthermore, MDS studies for mutations located in LMNA, LAMA2 and RYR1 suggest that the wild\u2010type proteins are more stable than their mutant counterparts, implying a potential mechanism of pathogenesis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The WES findings led us to identify reported as well as novel variants for the first time in Indian patients with CMD and CM. This allowed us to achieve an accurate genetic diagnosis, which was difficult using conventional diagnostic tools. Transferring these WES findings to clinical practice will help guide clinical care of the affected patients and inform genetic counselling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.14616","type":"journal-article","created":{"date-parts":[[2020,10,30]],"date-time":"2020-10-30T04:51:58Z","timestamp":1604033518000},"page":"992-1003","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Whole\u2010exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5843-5902","authenticated-orcid":false,"given":"Shamita","family":"Sanga","sequence":"first","affiliation":[{"name":"National Institute of Biomedical Genomics Kalyani 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