Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
Yeshaya Langer,
Adi Aran,
Suleyman Gulsuner,
Bassam Abu Libdeh,
Paul Renbaum,
Dario Brunetti,
Pedro-Filipe Teixeira,
Tom Walsh,
Sharon Zeligson,
Roberta Ruotolo,
Rachel Beeri,
Imad Dweikat,
Maher Shahrour,
Ariella Weinberg-Shukron,
Fouad Zahdeh,
Enrico Baruffini,
Elzbieta Glaser,
Mary-Claire King,
Ephrat Levy-Lahad,
Massimo Zeviani,
Reeval Segel
Nov 21, 2018
OBJECTIVE: To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. METHODS...