Article
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.
Molecular genetics and metabolism - 1 Aug 2010
Tuppen Helen A L, Fehmi Janev, Czermin Birgit, Goffrini Paola, Meloni Francesca, Ferrero Iliana, He Langping, Blakely Emma L, McFarland Robert, Horvath Rita, Turnbull Douglass M, Taylor Robert W
Abstract excerpt
Mutations of the BCS1L gene are a recognised cause of isolated respiratory chain complex III deficiency and underlie several fatal, neonatal mitochondrial diseases. Here we describe a 20-year-old Kenyan woman who initially presented as a floppy infant but whose condition progressed during childhood and adolescence with increasing muscle weakness, focal motor seizures and optic atrophy. Muscle biopsy demonstrated...
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