Article
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Annals of neurology - 1 Dec 2017
Maas Roeltje R, Iwanicka-Pronicka Katarzyna, Kalkan Ucar Sema, Alhaddad Bader, AlSayed Moeenaldeen, Al-Owain Mohammed A, Al-Zaidan Hamad I, Balasubramaniam Shanti, Barić Ivo, Bubshait Dalal K, Burlina Alberto, Christodoulou John, Chung Wendy K, Colombo Roberto, Darin Niklas, Freisinger Peter, Garcia Silva Maria Teresa, Grunewald Stephanie, Haack Tobias B, van Hasselt Peter M, Hikmat Omar, Hörster Friederike, Isohanni Pirjo, Ramzan Khushnooda, Kovacs-Nagy Reka, Krumina Zita, Martin-Hernandez Elena, Mayr Johannes A, McClean Patricia, De Meirleir Linda, Naess Karin, Ngu Lock H, Pajdowska Magdalena, Rahman Shamima, Riordan Gillian, Riley Lisa, Roeben Benjamin, Rutsch Frank, Santer Rene, Schiff Manuel, Seders Martine, Sequeira Silvia, Sperl Wolfgang, Staufner Christian, Synofzik Matthis, Taylor Robert W, Trubicka Joanna, Tsiakas Konstantinos, Unal Ozlem, Wassmer Evangeline, Wedatilake Yehani, Wolff Toni, Prokisch Holger, Morava Eva, Pronicka Ewa, Wevers Ron A, de Brouwer Arjan P, Wortmann Saskia B
Abstract excerpt
OBJECTIVE: 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. RESULTS: Sixty-seven individuals (39 previously unreported) from 59 families were included...
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