Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.

Felix DistelmaierAbdullah SezerChristina HelmStephan WaldmüllerAnnette SeibtAndrea GangfußHeike KölbelUlrike Schara-SchmidtDeniz YukselBeril TalimErtan MayatepekStefan NikolinJoachim WeisAndreas RoosTobias B Haack

Published in: Brain : a journal of neurology (2024)

Keyphrases

copy number
intellectual disability
late onset
early life
childhood cancer
muscular dystrophy
autism spectrum disorder
early onset
young adults