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Dokumenttyp:
journal article 
Autor(en):
Maas, Roeltje R; Iwanicka-Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A; Al-Zaidan, Hamad I; Balasubramaniam, Shanti; Bari?, 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, Z...    »
 
Titel:
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. 
Abstract:
3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported.Sixty-seven individuals (39 previously unreported) from 59 families were included (age range = 5 days-33.4 years, median age = 9 years). A total of 41 different SERAC1 variants were identified, includ...    »
 
Zeitschriftentitel:
Ann Neurol 
Jahr:
2017 
Band / Volume:
82 
Heft / Issue:
Seitenangaben Beitrag:
1004-1015 
Sprache:
eng 
Print-ISSN:
0364-5134 
TUM Einrichtung:
Institut für Humangenetik