{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T13:43:05Z","timestamp":1792417385626,"version":"4.4.0"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T00:00:00Z","timestamp":1769817600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder caused by mutations in the\n                    <jats:italic toggle=\"yes\">PNPLA2<\/jats:italic>\n                    gene, leading to defective triglyceride hydrolysis and lipid accumulation in tissues. We report a 28-year-old Indian female presented with a 4-year history of progressive, asymmetric limb weakness, elevated creatine kinase (1000 U\/L), and vitiligo. Muscle magnetic resonance imaging (MRI) revealed asymmetric fatty infiltration. Muscle biopsy showed subtle vacuolar changes; notably, oil red O staining was negative, a known limitation in formalin-fixed tissue. Whole-exome sequencing identified a novel, likely pathogenic homozygous frameshift mutation, c. 212del, in exon 3 of\n                    <jats:italic toggle=\"yes\">PNPLA2<\/jats:italic>\n                    , absent in population databases (gnomAD, ClinVar) and classified as likely pathogenic as per American College of Medical Genetics and Genomics (ACMG) criteria (PVS1, PM2). This case underscores the phenotypic variability of NLSDM and expands the genetic spectrum of the disease in the Indian population, highlighting the critical role of genetic testing for definitive diagnosis\u2014particularly when histopathological lipid staining is unrevealing.\n                  <\/jats:p>","DOI":"10.4103\/aian.aian_881_25","type":"journal-article","created":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T06:00:12Z","timestamp":1770012012000},"page":"257-260","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Neutral Lipid Storage Disease with Myopathy: A Case Report with a Novel PNPLA2 Mutation"],"prefix":"10.4103","volume":"29","author":[{"given":"Soaham","family":"Desai","sequence":"first","affiliation":[{"name":"Department of Neurology, Shree Krishna Hospital, Pramukhswami Medical College, Bhaikaka University, Anand, Gujarat, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arth","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shree Krishna Hospital, Pramukhswami Medical College, Bhaikaka University, Anand, Gujarat, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shruthi","family":"Neelamegam","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Mahadevan","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,1,31]]},"reference":[{"key":"R1-20261019","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1038\/ng1951","article-title":"The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy","volume":"39","author":"Fischer","year":"2007","journal-title":"Nat Genet"},{"key":"R2-20261019","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/s13023-017-0646-9","article-title":"Neutral lipid storage diseases: Clinical\/genetic features and natural history in a large cohort of Italian patients","volume":"12","author":"Pennisi","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"R3-20261019","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1007\/s00415-011-6055-4","article-title":"The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene","volume":"258","author":"Reilich","year":"2011","journal-title":"J Neurol"},{"key":"R4-20261019","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1186\/s13023-019-1209-z","article-title":"Neutral lipid storage disease with myopathy in China: A large multicentric cohort study","volume":"14","author":"Zhang","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"R5-20261019","doi-asserted-by":"crossref","first-page":"106","DOI":"10.4103\/aian.aian_333_21","article-title":"Mutation Spectrum of Primary Lipid Storage Myopathies","volume":"25","author":"Vengalil","year":"2022","journal-title":"Ann Indian Acad Neurol"},{"key":"R6-20261019","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/j.nmd.2014.04.001","article-title":"A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: A case report and literature review","volume":"24","author":"Kaneko","year":"2014","journal-title":"Neuromuscul 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Metab"},{"key":"R10-20261019","doi-asserted-by":"crossref","first-page":"e51","DOI":"10.1161\/CIRCRESAHA.113.300944","article-title":"Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy","volume":"112","author":"van de Weijer","year":"2013","journal-title":"Circ Res"},{"key":"R11-20261019","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.ijcard.2016.02.082","article-title":"Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease","volume":"210","author":"Muggenthaler","year":"2016","journal-title":"Int J Cardiol"},{"key":"R12-20261019","doi-asserted-by":"crossref","first-page":"554724","DOI":"10.3389\/fnint.2020.554724","article-title":"Case report: PNPLA2 gene complex heterozygous mutation leading to neutral lipid storage disease with myopathy","volume":"14","author":"Shi","year":"2020","journal-title":"Front Integr Neurosci"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_881_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T13:01:16Z","timestamp":1792414876000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_881_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,31]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_881_25","relation":{},"ISSN":["0972-2327","1998-3549"],"issn-type":[{"value":"0972-2327","type":"print"},{"value":"1998-3549","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,31]]},"assertion":[{"value":"2025-08-23","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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