New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.

Stéphanie Bauché Alain Sureau Damien Sternberg John RenduCéline BuonJulien MesséantMyriam BoëxDenis FurlingJulien FauréXénia LatypovaAntoinette Bernabe GelotMichèle MayerPierre MarySandra Whalen Emmanuel FournierIsabelle CloixGanaelle RemerandFanny LaffargueMarie-Christine NouguesBertrand Fontaine Bruno EymardArnaud IsapofLaure Strochlic

Published in: Neurology. Genetics (2020)

This study identifies new homozygous recessive SYT2 mutations as the underlying cause of severe and early presynaptic form of CMS expanding the genetic spectrum of recessive SYT2-related CMS associated with defects in neurotransmitter release.

Keyphrases

intellectual disability
muscular dystrophy
genome wide
early onset
drug induced
dna methylation
copy number