Article
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
Orphanet journal of rare diseases - 20 Apr 2017
Tegelberg Saara, Tomašić Nikica, Kallijärvi Jukka, Purhonen Janne, Elmér Eskil, Lindberg Eva, Nord David Gisselsson, Soller Maria, Lesko Nicole, Wedell Anna, Bruhn Helene, Freyer Christoph, Stranneheim Henrik, Wibom Rolf, Nennesmo Inger, Wredenberg Anna, Eklund Erik A, Fellman Vineta
Abstract excerpt
BACKGROUND: Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a process for which BCS1L protein is indispensable. Mutations in the BCS1L gene constitute the most common diagnosed cause of CIII deficiency, and the phenotypic spectrum arising from mutations in...
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