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 complex III deficiency and the pathogenicity of a novel, homozygous BCS1L mutation was confirmed by yeast complementation studies. Our data indicate that BCS1L mutations can cause a variable, neurological course which is not always fatal in childhood.

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation / H. A. L., Tuppen; J., Fehmi; B., Czermin; Goffrini, Paola; Meloni, Francesca; FERRERO FORTUNATI, Iliana; L., He; E. L., Blakely; R., Mcfarland; R., Horvath; D. M., Turnbull; R. W., Taylor. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7206. - 100:4(2010), pp. 345-348. [10.1016/j.ymgme.2010.04.010]

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

GOFFRINI, Paola;MELONI, Francesca;FERRERO FORTUNATI, Iliana;
2010-01-01

Abstract

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 complex III deficiency and the pathogenicity of a novel, homozygous BCS1L mutation was confirmed by yeast complementation studies. Our data indicate that BCS1L mutations can cause a variable, neurological course which is not always fatal in childhood.
2010
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation / H. A. L., Tuppen; J., Fehmi; B., Czermin; Goffrini, Paola; Meloni, Francesca; FERRERO FORTUNATI, Iliana; L., He; E. L., Blakely; R., Mcfarland; R., Horvath; D. M., Turnbull; R. W., Taylor. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7206. - 100:4(2010), pp. 345-348. [10.1016/j.ymgme.2010.04.010]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2307628
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