Article
A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency.
Clinical genetics - 1 Feb 2015
Ma Y-Y, Wu T-F, Liu Y-P, Wang Q, Li X-Y, Ding Y, Song J-Q, Yang Y-L, Zou L-P
Abstract excerpt
To investigate the clinical, enzymological and mitochondrial gene profiles of complex I deficiency in Chinese, clinical and laboratory data of the patients (79 boys, 54 girls) were retrospectively assessed. Activities of mitochondrial respiratory chain complexes in peripheral leucocytes were spectrophotometrically measured. The entire mitochondrial DNA (mtDNA) sequence was analyzed in 62 patients. Restriction...
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