TY - JOUR
T1 - Autosomal Recessive Lethal Infantile Cytochrome C Oxidase Deficiency
AU - Eshel, Gideon
AU - Lahat, Eliezer
AU - Fried, Kalman
AU - Barr, Josef
AU - Barash, Varda
AU - Gutman, Alisa
AU - DiMauro, Salvatore
AU - Aladjem, Mordechei
PY - 1991/6
Y1 - 1991/6
N2 - Three bedouin children with mitochondrial myopathy due to cytochrome c oxidase deficiency presented with progressive muscle weakness, failure to thrive, proximal renal tubular acidosis, and lactic acidemia leading to death. Two died by age 5 months and one by age 16 months. Cytochrome c oxidase was markedly reduced in skeletal muscle extracts of all three. Three other children of the same family with most probably the same metabolic aberration are also described. We suggest an autosomal recessive inheritance for this lethal mitochondrial myopathy.
AB - Three bedouin children with mitochondrial myopathy due to cytochrome c oxidase deficiency presented with progressive muscle weakness, failure to thrive, proximal renal tubular acidosis, and lactic acidemia leading to death. Two died by age 5 months and one by age 16 months. Cytochrome c oxidase was markedly reduced in skeletal muscle extracts of all three. Three other children of the same family with most probably the same metabolic aberration are also described. We suggest an autosomal recessive inheritance for this lethal mitochondrial myopathy.
UR - http://www.scopus.com/inward/record.url?scp=0025805936&partnerID=8YFLogxK
U2 - 10.1001/archpedi.1991.02160060079025
DO - 10.1001/archpedi.1991.02160060079025
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AN - SCOPUS:0025805936
SN - 0002-922X
VL - 145
SP - 661
EP - 664
JO - American Journal of Diseases of Children
JF - American Journal of Diseases of Children
IS - 6
ER -