Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

Y Langer, A Aran, S Gulsuner, BA Libdeh… - Journal of Medical …, 2018 - jmg.bmj.com
Objective To identify the genetic basis of a childhood-onset syndrome of variable severity
characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes …