{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:17:35Z","timestamp":1787764655917,"version":"build-2784847793"},"reference-count":86,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background and Objectives:<\/jats:title>\n                    <jats:p>Charcot-Marie-Tooth (CMT) disease is the commonest inherited neuromuscular disorder and has heterogeneous manifestations. Data regarding genetic basis of CMT from India is limited. This study aims to report the variations by using high throughput sequencing in Indian CMT cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Fifty-five probands (M:F 29:26) with suspected inherited neuropathy underwent genetic testing (whole exome: 31, clinical exome: 17 and targeted panel: 7). Their clinical and genetic data were analysed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Age at onset ranged from infancy to 54 years. Clinical features included early-onset neuropathy (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =23), skeletal deformities (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =45), impaired vision (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =8), impaired hearing (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =6), facial palsy (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =8), thickened nerves (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =4), impaired cognition (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =5), seizures (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =5), pyramidal signs (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =7), ataxia (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =8) and vocal cord palsy, slow tongue movements and psychosis in one patient each. Twenty-eight patients had demyelinating electrophysiology. Abnormal visual and auditory evoked potentials were noted in 60.60% and 37.5% respectively. Sixty two variants were identified in 37 genes including variants of uncertain significance (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =34) and novel variants (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      =45). Eleven patients had additional variations in genes implicated in CMTs\/ other neurological disorders. Ten patients did not have variations in neuropathy associated genes, but had variations in genes implicated in other neurological disorders. In seven patients, no variations were detected.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>In this single centre cohort study from India, genetic diagnosis could be established in 87% of patients with inherited neuropathy. The identified spectrum of genetic variations adds to the pool of existing data and provides a platform for validation studies in cell culture or animal model systems.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aian.aian_269_22","type":"journal-article","created":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T01:05:08Z","timestamp":1655168708000},"page":"407-416","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":7,"title":["Genetic Spectrum of Inherited Neuropathies in India"],"prefix":"10.4103","volume":"25","author":[{"given":"Shivani","family":"Sharma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Periyasamy","family":"Govindaraj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasha 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