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Titel:

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?

Dokumenttyp:
Case Reports; Journal Article; Article
Autor(en):
Freisinger, P; Horvath, R; Macmillan, C; Peters, J; Jaksch, M
Abstract:
Mutations in Sco2, a protein involved in copper trafficking to the terminal enzyme of the respiratory chain, cytochrome c oxidase, results in infantile hypertrophic cardioencephalomyopathy. We have recently shown that copper-histidine (Cu-his) supplementation of Sco2-deficient myoblasts rescues COX activity in vitro. Here, we report a patient with SCO 2 mutations and with resolution of severe hypertrophic cardiomyopathy. Weighing up the evidence, the most likely explanation for the improved card...     »
Zeitschriftentitel:
J Inherit Metab Dis
Jahr:
2004
Band / Volume:
27
Heft / Issue:
1
Seitenangaben Beitrag:
67-79
Sprache:
eng
Volltext / DOI:
doi:10.1023/B:BOLI.0000016614.47380.2f
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/14970747
Print-ISSN:
0141-8955
TUM Einrichtung:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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