title: Radiologic manifestation of a BCS1L-mutated patient.
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.
authors.forename: Evrim
authors.initials: E
authors.lastname: Özmen
authors.forename: Havva Akmaz
authors.initials: HA
authors.lastname: Ünlü
authors.forename: Tülin Hakan
authors.initials: TH
authors.lastname: Demirkan
authors.forename: Mehmet
authors.initials: M
authors.lastname: Tiftik
authors.forename: İbrahim
authors.initials: İ
authors.lastname: Adaletli
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010641:Phenotype; D014463:Ultrasonography; D014965:X-Rays
chemical_list: C435491:BCS1L protein, human; D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III