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Article

Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.

Neuromuscular disorders : NMD - 1 Feb 2009

Blázquez Alberto, Gil-Borlado Mari Carmen, Morán María, Verdú Alfonso, Cazorla-Calleja María Rosario, Martín Miguel A, Arenas Joaquín, Ugalde Cristina

Abstract excerpt

Mutations in BCS1L, a respiratory chain complex III assembly chaperone, constitute a major cause of mitochondrial complex III deficiency and are associated with GRACILE and Björnstad syndromes. Here we describe a 4-year-old infant with hyperlactacidemia, mild liver dysfunction, hypotonia, growth and psychomotor retardation, dysmorphic features and mitochondrial complex III deficiency. Respiratory chain enzyme...

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PMID: 19162478
DOI: 10.1016/j.nmd.2008.11.016

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