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- Title
Radiologic manifestation of a BCS1L-mutated patient.
- Authors
Özmen, Evrim; Ünlü, Havva Akmaz; Demirkan, Tülin Hakan; Tiftik, Mehmet; Adaletli, İbrahim
- Abstract
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.
- Publication
Journal of Pediatric Endocrinology & Metabolism, 2014, Vol 27, Issue 3/4, p363
- ISSN
0334-018X
- Publication type
Article
- DOI
10.1515/jpem-2013-0364