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


Maas R. R. , Iwanicka-Pronicka K., KALKAN UÇAR S., Alhaddad B., AlSayed M., Al-Owain M. A. , ...Daha Fazla

ANNALS OF NEUROLOGY, cilt.82, sa.6, ss.1004-1015, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 82 Konu: 6
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1002/ana.25110
  • Dergi Adı: ANNALS OF NEUROLOGY
  • Sayfa Sayıları: ss.1004-1015

Özet

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