{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T09:03:57Z","timestamp":1768467837760,"version":"3.49.0"},"reference-count":41,"publisher":"Elsevier BV","issue":"01","license":[{"start":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T00:00:00Z","timestamp":1636416000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Glob Med Genet"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Calpainopathy is caused by mutations in the CAPN3. There is only one clinical and genetic study of CAPN3 from India and none from South India. A total of 72 (male[M]:female [F]\u2009=\u200934:38) genetically confirmed probands from 72 independent families are included in this study. Consanguinity was present in 54.2%. The mean age of onset and duration of symptoms are 13.5\u2009\u00b1\u20096.4 and 6.3\u2009\u00b1\u20094.7 years, respectively. Positive family history occurred in 23.3%. The predominant initial symptoms were proximal lower limb weakness (52.1%) and toe walking (20.5%). At presentation, 97.2% had hip girdle weakness, 69.4% had scapular winging, and 58.3% had contractures. Follow-up was available in 76.4%, and 92.7% were ambulant at a mean age of 23.7\u2009\u00b1\u20097.6 years and duration of 4.5 years, remaining 7.3% became wheelchair-bound at 25.5\u2009\u00b1\u20095.7 years of age (mean duration\u2009=\u200913.5\u2009\u00b1\u20094.6), 4.1% were aged more than 40 years (duration range\u2009=\u20095\u201320). The majority remained ambulant 10 years after disease onset. Next-generation sequencing (NGS) detected 47 unique CAPN3 variants in 72 patients, out of which 19 are novel. Missense variants were most common occurring in 59.7% (homozygous\u2009=\u200929; Compound heterozygous\u2009=\u200914). In the remaining 29 patients (40.3%), at least one suspected loss of function variant was present. Common recurrent variants were c.2051\u20131G\u2009&gt;\u2009T and c.2338G\u2009&gt;\u2009C in 9.7%, c.1343G\u2009&gt;\u2009A, c.802\u20139G\u2009&gt;\u2009A, and c.1319G\u2009&gt;\u2009A in 6.9% and c.1963delC in 5.5% of population. Large deletions were observed in 4.2%. Exon 10 mutations accounted for 12 patients (16.7%). Our study highlights the efficiency of NGS technology in screening and molecular diagnosis of limb-girdle muscular dystrophy with recessive form (LGMDR1) patients in India.<\/jats:p>","DOI":"10.1055\/s-0041-1736567","type":"journal-article","created":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T23:53:21Z","timestamp":1636502001000},"page":"034-041","source":"Crossref","is-referenced-by-count":8,"title":["Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1\/LGMD 2A Patients from India"],"prefix":"10.1016","volume":"09","author":[{"given":"Valakunja H.","family":"Ganaraja","sequence":"first","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiran","family":"Polavarapu","sequence":"first","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"},{"name":"Division of Neurology, Department of Medicine, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, The Ottawa Hospital, Ottawa, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mainak","family":"Bardhan","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veeramani","family":"Preethish-Kumar","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shingavi","family":"Leena","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ram M.","family":"Anjanappa","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"},{"name":"Division of Neurology, Department of Medicine, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, The Ottawa Hospital, Ottawa, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seena","family":"Vengalil","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saraswati","family":"Nashi","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gautham","family":"Arunachal","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Swetha","family":"Gunasekaran","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhaarini","family":"Mohan","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanita","family":"Raju","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gopikrishnan","family":"Unnikrishnan","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akshata","family":"Huddar","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valasani","family":"Ravi-Kiran","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priya T.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Psychiatric Social Work, National Institute of Mental Health and 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