Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy |
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Authors: | Knuf M Faber J Huth R G Freisinger P Zepp F Kampmann C |
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Institution: | Children's Hospital, Johannes Gutenberg-University, Mainz, Germany. |
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Abstract: | Fatal infantile cardioencephalomyopathy (OMIM No. 604377) is a disorder of the mitochondrial respiratory chain and is characterised by neonatal progressive muscular hypotonia and cardiomyopathy because of severe Cytochrome c oxidase deficiency. Here we report a novel mutation in the Cytochrome c oxidase assembly gene SCO2 in an infant with fatal infantile cardioencephalomyopathy despite normal initial metabolic screening. CONCLUSION: In newborns with unexplained muscular hypotonia and cardiomyopathy genetic testing of mitochondrial respiratory chain disorders might be helpful to establish a final diagnosis and guide treatment decisions. |
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Keywords: | Cardioencephalomyopathy Mitochondrial disorder Respiratory chain deficiency SCO2 |
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