Article
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
Cold Spring Harbor molecular case studies - 1 Dec 2022
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
Abstract excerpt
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 one subtype may exacerbate disease in another (Engel et al., Lancet Neurol 14: 420 [2015]; Finsterer, Orphanet J Rare...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.