{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T20:14:09Z","timestamp":1788207249563,"version":"build-2803163510"},"reference-count":21,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T00:00:00Z","timestamp":1757894400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T00:00:00Z","timestamp":1757894400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:p>\n                    Biallelic mutations in\n                    <jats:italic toggle=\"yes\">XPNPEP3<\/jats:italic>\n                    gene, encoding a mitochondrial peptidase, mainly cause nephronophthisis, but associated muscle involvement remains poorly described. We report here a 44-year-old male presenting since childhood with exercise intolerance and recurrent rhabdomyolysis. Electroneuromyography revealed a sensory axonal neuropathy and brain MRI showed white matter lesions in the posterior cranial fossa. Muscle biopsy revealed ragged-red fibers, COX negative fibers and abnormal mitochondria in electron microscopy. Whole genome sequencing identified a homozygous frameshift variant in the\n                    <jats:italic toggle=\"yes\">XPNPEP3<\/jats:italic>\n                    gene. Our results expand the spectrum associated with\n                    <jats:italic toggle=\"yes\">XPNPEP3<\/jats:italic>\n                    variants, including metabolic myopathy with subclinical central and peripheral nervous system involvement.\n                  <\/jats:p>","DOI":"10.1177\/22143602251352986","type":"journal-article","created":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T17:40:51Z","timestamp":1757958051000},"page":"774-780","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel\n                    <i>XPNPEP3<\/i>\n                    gene variant manifesting as rhabdomyolysis and exercise intolerance"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-7454-7679","authenticated-orcid":false,"given":"Katia","family":"Staedler","sequence":"first","affiliation":[{"name":"Neuromuscular reference center Nord\/Est\/Ile de France, Myology Institute, Sorbonne University, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Assistance Publique des H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Nectoux","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine for System and Organ Diseases, Genetic and Genomic Medicine Federation, Paris Cit\u00e9 University, Cochin Hospital, Assistance Publique des H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Metay","sequence":"additional","affiliation":[{"name":"Molecular and Cellular Cardiogenetics and Myogenetics, Sorbonne University, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Assistance Publique des H\u00f4pitaux de Paris, Paris, France"},{"name":"Myology Research Center, Sorbonne University-Inserm UMRS974, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alban","family":"Lermine","sequence":"additional","affiliation":[{"name":"SeqOIA Plateform, Assistance Publique des H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocio-Nur","family":"Villar-Quiles","sequence":"additional","affiliation":[{"name":"Neuromuscular reference center Nord\/Est\/Ile de France, Myology Institute, Sorbonne University, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Assistance Publique des H\u00f4pitaux de Paris, Paris, France"},{"name":"Myology Research Center, Sorbonne University-Inserm UMRS974, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1329-9131","authenticated-orcid":false,"given":"Teresinha","family":"Evangelista","sequence":"additional","affiliation":[{"name":"Neuromuscular reference center Nord\/Est\/Ile de France, Myology Institute, Sorbonne University, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Assistance Publique des H\u00f4pitaux de Paris, Paris, France"},{"name":"Neuromuscular Morphology Unit, Myology Institute, Sorbonne University, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Assistance Publique des H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clemence","family":"Labasse","sequence":"additional","affiliation":[{"name":"Neuromuscular Morphology Unit, Myology Institute, Sorbonne University, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Assistance Publique des H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Lac\u00e8ne","sequence":"additional","affiliation":[{"name":"Neuromuscular Morphology Unit, Myology Institute, Sorbonne University, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Assistance Publique des H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4054-2838","authenticated-orcid":false,"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"Neuromuscular reference center Nord\/Est\/Ile de France, Myology Institute, Sorbonne University, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Assistance Publique des H\u00f4pitaux de Paris, Paris, France"},{"name":"Myology Research Center, Sorbonne University-Inserm UMRS974, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,9,15]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.abb.2004.12.023"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI40076"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M117.783357"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.29252\/ibj.24.6.400"},{"key":"e_1_3_2_6_2","article-title":"Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3","volume":"9","author":"Ben-Shabat I","unstructured":"Ben-Shabat I, Kvarnung M, Sperker W, et al. Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3. Neurol Genet 9. Epub ahead of print December 2023. DOI: https:\/\/doi.org\/10.1212\/nxg.0000000000200100","journal-title":"Neurol Genet"},{"key":"e_1_3_2_7_2","article-title":"Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1","volume":"26","author":"Tong L","unstructured":"Tong L, Rao J, Yang C, et al. Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1. iScience 26. Epub ahead of print 18 August 2023. 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