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. |
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| 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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| ISSN: | 2214-3602 |
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| DOI: | 10.1177/22143602251352986 |
