Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases Vrije Universiteit Brussel KU Leuven
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.
METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings.
RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 ...