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Title:

Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.

Document type:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):
Knuf, M; Faber, J; Huth, RG; Freisinger, P; Zepp, F; Kampmann, C
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:
1
Pages contribution:
130-2
Language:
eng
Fulltext / DOI:
doi:10.1111/j.1651-2227.2007.00008.x
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/17187620
Print-ISSN:
0803-5253
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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