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

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

Freisinger, P.; Horvath, R.; Macmillan, C.; Peters, J.; Jaksch, M.

Journal of inherited metabolic disease, 01/2004, Letnik: 27, Številka: 1

Journal Article

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 SCO2 mutations and with resolution of severe hypertrophic cardiomyopathy. Weighing up the evidence, the most likely explanation for the improved cardiac function in this patient was the subcutaneous application of Cu‐his.

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Freisinger, P. | Horvath, R. | Macmillan, C. | Peters, J. | Jaksch, M.

Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.

Leto	Faktor vpliva		Izdaja		Kategorija		Razvrstitev
Leto	JCR	SNIP	JCR	SNIP	JCR	SNIP	JCR	SNIP

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