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


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MAAS R. R. , IWANICKA-PRONICKA K., Ucar S. , ALHADDAD B., ALSAYED M., AL-OWAIN M. A. , ...Daha Fazla

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

  • 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.