Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
| Autor: | Alfadhel M; Department of Paediatrics, Children's and Women's Health Centre, Vancouver, British Columbia, Canada., Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD |
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| Jazyk: | angličtina |
| Zdroj: | American journal of medical genetics. Part A [Am J Med Genet A] 2011 Apr; Vol. 155A (4), pp. 840-4. Date of Electronic Publication: 2011 Mar 15. |
| DOI: | 10.1002/ajmg.a.33881 |
| Abstrakt: | We describe respiratory chain complex IV deficiency (cytochrome c oxidase deficiency) in a female infant with a neonatal rapidly progressive fatal course characterized by microcephaly, encephalopathy, persistent lactic acidosis, and hypertrophic cardiomyopathy. Postmortem cardiac muscle study showed marked complex IV deficiency. In contrast, complex IV activity was only slightly decreased in the skeletal muscle. Subsequent molecular investigations showed compound heterozygosity for two known pathogenic mutations in the COX15 gene. We compare the findings in our patient to those of the three previously reported cases. (Copyright © 2011 Wiley-Liss, Inc.) |
| Databáze: | MEDLINE |
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