Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue

Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle hypotonia. PMS is caused by a heterozygous de...

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Detalles Bibliográficos
Autores principales: Yildiz, Berra, Schiedt, Lisa, Mulaw, Medhanie, Bockmann, Jürgen, Jesse, Sarah, Lutz, Anne-Kathrin, Boeckers, Tobias M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511643/
https://www.ncbi.nlm.nih.gov/pubmed/37745298
http://dx.doi.org/10.3389/fcell.2023.1243299

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511643/
https://www.ncbi.nlm.nih.gov/pubmed/37745298
http://dx.doi.org/10.3389/fcell.2023.1243299

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