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Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.

Ricardo A MaselliJessica VázquezLeah SchrumpfJuan ArredondoMarian LaraJonathan B StroberPeter PytelRobert L WollmannMichael Ferns
Published in: Molecular genetics & genomic medicine (2018)
In summary, we report a patient with a multisystem neurologic disorder and altered SV regulation attributed to defects in RPH3A, which grants further studies of this gene in human disorders of synaptic transmission.
Keyphrases
  • copy number
  • case report
  • endothelial cells
  • prefrontal cortex
  • early onset
  • pluripotent stem cells
  • case control
  • gene expression
  • amino acid
  • transcription factor
  • genome wide analysis