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Dokumenttyp:
journal article 
Autor(en):
Knuf, M; Faber, J; Huth, RG; Freisinger, P; Zepp, F; Kampmann, C 
Titel:
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...    »
 
Zeitschriftentitel:
Acta Paediatr 
Jahr:
2007 
Band / Volume:
96 
Heft / Issue:
Seitenangaben Beitrag:
130-2 
Sprache:
eng 
Print-ISSN:
0803-5253 
TUM Einrichtung:
Kinderklinik und Poliklinik