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, Sabrina Malone Jenkins
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 (Finsterer 2019; Prior et al. 2021; Engel et al. 2015). The SNAP25-related CMS subtype (congenital myasthenic syndrome 18, CMS18; MIM #616330) is a rare disorder characterized by muscle fatigability, delayed psychomotor development and ataxia...
November 15, 2022: Cold Spring Harbor Molecular Case Studies