Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome
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DOI: 10.1101/mcs.a006242
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… read more here.
Keywords: genome sequencing; snap25 variant; myasthenic syndrome; novo snap25 ... See more keywords