Radiologic manifestation of a BCS1L-mutated patient


Ozmen E., UNLU H. A. , DEMIRKAN T. H. , TIFTIK M., Adaletli I.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.27, ss.363-365, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 27
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1515/jpem-2013-0364
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.363-365

Özet

There are various phenotypes of mutations in BCS1L which encode a mitochondrial inner membrane protein that facilitates the insertion of Rieske iron-sulfur protein into respiratory chain complex III. Herein we report the radiologic findings of a patient with bc1 synthesis-like (BCS1L) gene mutation who was presented with convulsions.