期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 155A, 期 4, 页码 840-844出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.33881
关键词
cytochrome c oxidase deficiency; COX15; mitochondrial disorders; complex IV deficiency; nuclear gene defect; cardiomyopathy; encephalopathy
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. (C) 2011 Wiley-Liss, Inc.
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