{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T08:56:54Z","timestamp":1764320214847,"version":"3.46.0"},"reference-count":37,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T00:00:00Z","timestamp":1764288000000},"content-version":"vor","delay-in-days":27,"URL":"https:\/\/www.edpsciences.org\/en\/authors\/copyright-and-licensing"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>\n                    Les neuropathies et les myopathies ont longtemps \u00e9t\u00e9 \u00e9tudi\u00e9es s\u00e9par\u00e9ment, avec peu ou pas de recouvrement d\u00e9crit entre les deux entit\u00e9s. Toutefois, l\u2019av\u00e8nement de la biologie mol\u00e9culaire \u00e0 haut d\u00e9bit au cours des 20 derni\u00e8res ann\u00e9es a permis de d\u00e9couvrir des mutations d\u2019un m\u00eame g\u00e8ne causant myopathies et neuropathies h\u00e9r\u00e9ditaires. Si ce chevauchement est bien connu pour les g\u00e8nes mitochondriaux, il est plus inattendu pour des g\u00e8nes tels que\n                    <jats:italic>BAG3, DES et CRYAB<\/jats:italic>\n                    , mut\u00e9s \u00e0 la fois dans les myopathies myofibrillaires et dans des neuropathies pouvant \u00eatre isol\u00e9es ou associ\u00e9es \u00e0 des atteintes musculaires. Plus r\u00e9cemment, des g\u00e8nes impliqu\u00e9s dans des prot\u00e9inopathies multi-syst\u00e9miques, tels que\n                    <jats:italic>VCP, MATR3, SQTMS1<\/jats:italic>\n                    et\n                    <jats:italic>TIA1<\/jats:italic>\n                    ont \u00e9galement \u00e9t\u00e9 associ\u00e9s \u00e0 diverses combinaisons de l\u00e9sions nerveuses, c\u00e9r\u00e9brales, musculaires et osseuses. D\u2019autre part, des g\u00e8nes comme\n                    <jats:italic>HSPB8 ou SPTAN1<\/jats:italic>\n                    , connus pour \u00eatre responsables de neuropathie motrice distale, ont \u00e9t\u00e9 impliqu\u00e9s dans la myopathie distale et\/ou axiale ou dans un tableau mixte combinant des composantes neurog\u00e8ne et myog\u00e8ne, \u00e0 la fois \u00e9lectromyographiquement et histologiquement. Au fur et \u00e0 mesure que les techniques de s\u00e9quen\u00e7age progressent, des corr\u00e9lations g\u00e9notype-ph\u00e9notype inattendues apparaissent, impliquant un g\u00e8ne de myopathie dans une neuropathie p\u00e9riph\u00e9rique et vice versa, conduisant \u00e0 r\u00e9\u00e9valuer le chevauchement existant entre ces deux entit\u00e9s.\n                  <\/jats:p>","DOI":"10.1051\/medsci\/2025169","type":"journal-article","created":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T08:52:58Z","timestamp":1764319978000},"page":"6-13","source":"Crossref","is-referenced-by-count":0,"special_numbering":"Hors s\u00e9rie n\u00b0 2","title":["Chevauchement g\u00e9n\u00e9tique entre neuropathies et myopathies : vers une convergence des deux entit\u00e9s"],"prefix":"10.1051","volume":"41","author":[{"given":"Tanya","family":"Stojkovic","sequence":"first","affiliation":[{"name":"APHP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, Centre de r\u00e9f\u00e9rence des maladies 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