Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome

Congenital myasthenic syndrome (CMS) is a group of 32 disorders involving genetic dysfunction at the neuromuscular junction resulting in skeletal muscle weakness that worsens with physical activity. Precise diagnosis and molecular subtype identification are critical for treatment as medication for o...

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Detalles Bibliográficos
Autores principales: Reynolds, Hayley M., Wen, Ting, Farrell, Andrew, Mao, Rong, Moore, Barry, Boyden, Steven E., Bayrak-Toydemir, Pinar, Nicholas, Thomas J., Rynearson, Shawn, Holt, Carson, Miller, Christine, Noble, Katherine, Bentley, Dawn, Palmquist, Rachel, Ostrander, Betsy, Manberg, Stephanie, Bonkowsky, Joshua L., Shayota, Brian J., Jenkins, Sabrina Malone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808558/
https://www.ncbi.nlm.nih.gov/pubmed/36379720
http://dx.doi.org/10.1101/mcs.a006242

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