Alteration of actin cytoskeletal organisation in fetal akinesia deformation sequence

Abstract Fetal akinesia deformation sequence (FADS) represents the severest form of congenital myasthenic syndrome (CMS), a diverse group of inherited disorders characterised by impaired neuromuscular transmission. Most CMS originate from defects in the muscle nicotinic acetylcholine receptor, but t...

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Xehetasun bibliografikoak
Egile Nagusiak: Ramona Jühlen, Lukas Grauer, Valérie Martinelli, Chantal Rencurel, Birthe Fahrenkrog
Formatua: Artikulua
Hizkuntza:English
Argitaratua: Nature Portfolio 2024-01-01
Saila:Scientific Reports
Sarrera elektronikoa:https://doi.org/10.1038/s41598-023-50615-1