Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Szabolcs SzelingerJonida KrateKeri RamseySamuel P StromPerry B ShiehHane LeeNewell BelnapChristopher BalakAshley L SiniardMegan RussellRyan RichholtMatt De BothAna M ClaasenIsabelle SchrauwenStanley F NelsonMatthew J HuentelmanDavid W CraigSamuel P YangSteven A MooreKumaraswamy SivakumarVinodh NarayananSampathkumar Rangasamynull nullPublished in: Neurology. Genetics (2020)
These results expand on the spectrum of known loss-of-function GFPT1 mutations in CMS12 and in one family demonstrate a novel mode of inheritance due to UPD.