{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:36:44Z","timestamp":1792787804917,"version":"4.5.0"},"reference-count":24,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:00:00Z","timestamp":1789948800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:00:00Z","timestamp":1789948800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"European Union - Next Generation EU, PRIN 2022 PNRR","award":["P2022AWA84"],"award-info":[{"award-number":["P2022AWA84"]}],"id":[{"id":"https:\/\/ror.org\/019w4f821","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"abstract":"<jats:p>\n                    Mutations in the\n                    <jats:italic toggle=\"yes\">PNPLA2<\/jats:italic>\n                    gene, which encodes adipose triglyceride lipase (ATGL), are linked to neutral lipid storage disease with myopathy (NLSDM). This rare genetic disorder is marked by abnormal accumulation of neutral lipids in cytoplasmic lipid droplets, leading to muscle-related symptoms such as weakness, cramps and progressive myopathy in almost all patients, and cardiomyopathy in about half of the patients. Here, we report a novel\n                    <jats:italic toggle=\"yes\">PNPLA2<\/jats:italic>\n                    variant and the clinical and MRI findings of a 42-year-old Italian male with NLSDM, revealing a myopathic pattern involving both proximal and distal muscles of all four limbs, as well as axial and facial muscles, without detectable cardiac abnormalities. Genetic testing uncovered a novel\n                    <jats:italic toggle=\"yes\">PNPLA2<\/jats:italic>\n                    homozygous mutation, resulting in the deletion of a single amino acid in the first ATGL LC3-interacting region (LIR) motif. In addition, bioinformatic analyses predicted changes in mutated ATGL\u2019s structure that could affect its enzymatic function and impair both lipolysis and lipophagy by disrupting ATGL-LC3 interaction. Western blot analysis confirmed a block in lipophagic flux. This study broadens our understanding of the genetic and clinical heterogeneity of NLSDM, highlighting the complexity of the disease.\n                  <\/jats:p>","DOI":"10.1177\/22143602261481269","type":"journal-article","created":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T10:36:38Z","timestamp":1789986998000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Delving into the clinical and genetic spectrum of NLSDM: A case study"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3333-0068","authenticated-orcid":false,"given":"Daniela","family":"Tavian","sequence":"first","affiliation":[{"name":"Universit\u00e0 Cattolica del Sacro Cuore"},{"name":"Universit\u00e0 Cattolica Del Sacro Cuore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-2303-1180","authenticated-orcid":false,"given":"Barbara","family":"Risi","sequence":"additional","affiliation":[{"name":"NeMO-Brescia Clinical Center for Neuromuscular Diseases"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4657-0557","authenticated-orcid":false,"given":"Laura","family":"Moro","sequence":"additional","affiliation":[{"name":"University of Piemonte Orientale"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0600-6855","authenticated-orcid":false,"given":"Elena M.","family":"Pennisi","sequence":"additional","affiliation":[{"name":"San Filippo Neri Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0119-3639","authenticated-orcid":false,"given":"Alessandro","family":"Padovani","sequence":"additional","affiliation":[{"name":"University of Brescia, Brescia, Italy"},{"name":"ASST Spedali Civili"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9554-8794","authenticated-orcid":false,"given":"Corrado","family":"Angelini","sequence":"additional","affiliation":[{"name":"University of Padova"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6551-6698","authenticated-orcid":false,"given":"Sara","family":"Missaglia","sequence":"additional","affiliation":[{"name":"Universit\u00e0 Cattolica del Sacro Cuore"},{"name":"Universit\u00e0 Cattolica Del Sacro Cuore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2852-7512","authenticated-orcid":false,"given":"Massimiliano","family":"Filosto","sequence":"additional","affiliation":[{"name":"NeMO-Brescia Clinical Center for Neuromuscular Diseases"},{"name":"University of Brescia, Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,9,21]]},"reference":[{"key":"e_1_3_8_2_2","doi-asserted-by":"publisher","DOI":"10.4081\/ejtm.2022.10645"},{"key":"e_1_3_8_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.07.007"},{"key":"e_1_3_8_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.12.012"},{"key":"e_1_3_8_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.01.011"},{"key":"e_1_3_8_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.04.010"},{"key":"e_1_3_8_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000508346"},{"key":"e_1_3_8_8_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.113.300944"},{"key":"e_1_3_8_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.05.001"},{"key":"e_1_3_8_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2018.03.001"},{"key":"e_1_3_8_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26761"},{"key":"e_1_3_8_12_2","doi-asserted-by":"publisher","DOI":"10.3390\/cells8020187"},{"key":"e_1_3_8_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/s42255-021-00493-6"},{"key":"e_1_3_8_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2018.10.008"},{"key":"e_1_3_8_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.03.026"},{"key":"e_1_3_8_16_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21176113"},{"key":"e_1_3_8_17_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1209-z"},{"key":"e_1_3_8_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2019.03.003"},{"key":"e_1_3_8_19_2","first-page":"686","article-title":"Lipophagy: Molecular Mechanisms and Implications in Metabolic Disorders","volume":"43","author":"Shin DW","year":"2020","unstructured":"Shin DW. 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