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Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy

19 Sept 2011

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is frequently fatal in infancy. Mitochondrial disease causing infantile HCM is characterised by extreme biochemical and genetic heterogeneity, but deficiency of respiratory chain complex I is observed relatively frequently. Identification of the precise genetic basis has prognostic implications for the likelihood of neurological involvement. OBJECTIVE: The authors'...

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PMID: 21931170
DOI: 10.1136/jmedgenet-2011-100340

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