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)