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Titel:

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

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Article
Autor(en):
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...     »
Zeitschriftentitel:
Acta Paediatr
Jahr:
2007
Band / Volume:
96
Heft / Issue:
1
Seitenangaben Beitrag:
130-2
Sprache:
eng
Volltext / DOI:
doi:10.1111/j.1651-2227.2007.00008.x
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/17187620
Print-ISSN:
0803-5253
TUM Einrichtung:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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