1. Rapid genome sequencing identifies a novel de novo
- Author
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Hayley M, Reynolds, Ting, Wen, Andrew, Farrell, Rong, Mao, Barry, Moore, Steven E, Boyden, Pinar, Bayrak-Toydemir, Thomas J, Nicholas, Shawn, Rynearson, Carson, Holt, Christine, Miller, Katherine, Noble, Dawn, Bentley, Rachel, Palmquist, Betsy, Ostrander, Stephanie, Manberg, Joshua L, Bonkowsky, Brian J, Shayota, and Sabrina Malone, Jenkins
- Subjects
Myasthenic Syndromes, Congenital ,Phenotype ,Synaptosomal-Associated Protein 25 ,Whole Genome Sequencing ,Humans ,Chromosome Mapping ,Pedigree - Abstract
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.
- Published
- 2022