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A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.

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Title: A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.
Authors: Staedler K; Neuromuscular reference center Nord/Est/Ile de France, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France., Nectoux J; Department of Genomic Medicine for System and Organ Diseases, Genetic and Genomic Medicine Federation, Paris Cité University, Cochin Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France., Metay C; Molecular and Cellular Cardiogenetics and Myogenetics, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Myology Research Center, Sorbonne University-Inserm UMRS974, Paris, France., Lermine A; SeqOIA Plateform, Assistance Publique des Hôpitaux de Paris, Paris, France., Villar-Quiles RN; Neuromuscular reference center Nord/Est/Ile de France, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Myology Research Center, Sorbonne University-Inserm UMRS974, Paris, France., Evangelista T; Neuromuscular reference center Nord/Est/Ile de France, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Neuromuscular Morphology Unit, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France., Labasse C; Neuromuscular Morphology Unit, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France., Lacène E; Neuromuscular Morphology Unit, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France., Stojkovic T; Neuromuscular reference center Nord/Est/Ile de France, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Myology Research Center, Sorbonne University-Inserm UMRS974, Paris, France.
Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 Jul; Vol. 13 (4), pp. 774-780. Date of Electronic Publication: 2025 Sep 15.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.
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  Data: <searchLink fieldCode="AU" term="%22Staedler+K%22">Staedler K</searchLink>; Neuromuscular reference center Nord/Est/Ile de France, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nectoux+J%22">Nectoux J</searchLink>; Department of Genomic Medicine for System and Organ Diseases, Genetic and Genomic Medicine Federation, Paris Cité University, Cochin Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Metay+C%22">Metay C</searchLink>; Molecular and Cellular Cardiogenetics and Myogenetics, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Myology Research Center, Sorbonne University-Inserm UMRS974, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lermine+A%22">Lermine A</searchLink>; SeqOIA Plateform, Assistance Publique des Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Villar-Quiles+RN%22">Villar-Quiles RN</searchLink>; Neuromuscular reference center Nord/Est/Ile de France, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Myology Research Center, Sorbonne University-Inserm UMRS974, Paris, France.<br /><searchLink fieldCode="AU" term="%22Evangelista+T%22">Evangelista T</searchLink>; Neuromuscular reference center Nord/Est/Ile de France, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Neuromuscular Morphology Unit, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Labasse+C%22">Labasse C</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lacène+E%22">Lacène E</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Stojkovic+T%22">Stojkovic T</searchLink>; Neuromuscular reference center Nord/Est/Ile de France, Myology Institute, Sorbonne University, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Myology Research Center, Sorbonne University-Inserm UMRS974, Paris, France.
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  Data: <searchLink fieldCode="JN" term="%22101649948%22">Journal of neuromuscular diseases</searchLink> [J Neuromuscul Dis] 2026 Jul; Vol. 13 (4), pp. 774-780. <i>Date of Electronic Publication: </i>2025 Sep 15.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IOS+Press%22">IOS Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101649948 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2214-3602 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222143599%22">22143599 </searchLink><i>NLM ISO Abbreviation: </i>J Neuromuscul Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1177/22143602251352986
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        Text: English
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              M: 07
              Text: 2026 Jul
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