Sign Up to like & get
recommendations!
1
Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
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