This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Gideon Eshel, MD; Eliezer Lahat, MD; Kalman Fried, MD, PhD; Josef Barr, MD; Varda Barash, MD; Alisa Gutman, MD; Salvatore DiMauro, MD; Mordechei Aladjem, MD

Am J Dis Child. 1991;145(6):661-664.

Abstract
• 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.

(AJDC. 1991;145:661-664)

Author Affiliations
From the Pediatric Division (Drs Eshel, Lahat, Barr, and Aladjem) and Department of Genetics (Dr Fried), Assaf Harofeh Medical Center, Sackler School of Medicine, Tel Aviv, Israel; the Department of Clinical Biochemistry, Hadassah Medical Center, Jerusalem, Israel (Drs Barash and Gutman); and the Center for Muscular Dystrophy and Related Diseases, Columbia University, New York, NY (Dr DiMauro).

Footnotes
Accepted for publication July 9, 1990.

Reprint requests to Assaf Harofeh Medical Center, Zerifin 70300, Israel (Dr Eshel).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?