Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

@article{Maselli2017PresynapticCM,
  title={Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.},
  author={Ricardo A Maselli and Juan Carlos Arredondo and Jessica V{\'a}zquez and Jessica X Chong and Michael J Bamshad and Deborah A. Nickerson and Marian Lara and Fiona Yim Hung Ng and Victoria Lee Lo and Peter Pytel and Craig M. McDonald},
  journal={American journal of medical genetics. Part A},
  year={2017},
  volume={173 8},
  pages={
          2240-2245
        }
}
Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual… CONTINUE READING