Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases


Maas R. R. , Iwanicka-Pronicka K., Ucar S. K. , Alhaddad B., AlSayed M., Al-Owain M. A. , ...More

ANNALS OF NEUROLOGY, vol.82, no.6, pp.1004-1015, 2017 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 82 Issue: 6
  • Publication Date: 2017
  • Doi Number: 10.1002/ana.25110
  • Journal Name: ANNALS OF NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.1004-1015

Abstract

Objective3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.