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Document type:
journal article 
Author(s):
Knuf, M; Faber, J; Huth, RG; Freisinger, P; Zepp, F; Kampmann, C 
Title:
Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy. 
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 cardiomyop...    »
 
Journal title abbreviation:
Acta Paediatr 
Year:
2007 
Journal volume:
96 
Journal issue:
Pages contribution:
130-2 
Language:
eng 
Print-ISSN:
0803-5253 
TUM Institution:
Kinderklinik und Poliklinik