Mitochondrial <i>PITRM1</i> peptidase loss-of-function in childhood cerebellar atrophy

Abstract

<i>PITRM1T931M</i> results in childhood-onset recessive cerebellar pathology. Severity of <i>PITRM1</i>-related disease may be affected by the degree of impairment in cleavage of mitochondrial long peptides. Disruption and deletion of X linked regulatory segments may also contribute to severity.