HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Heiman-Patterson, T. D. Articles by Schotland, D. L. Search for Related Content PubMed PubMed Citation Articles by Heiman-Patterson, T. D. Articles by Schotland, D. L.

Cytochrome-c-oxidase deficiency in a floppy infant

Henry M. Watts Neuromuscular Disease Research Center (Drs. Schotland, Heiman-Patterson, Bonilla, and Foreman), Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA, and the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases (Dr. DiMauro), Columbia Presbyterian Medical Center, New York, NY.

We report an infant with cytochrome-c-oxidase deficiency whose clinical presentation is identical to that of two previously reported patients, including failure to thrive, respiratory decompensation, acidosis, DeToni-Fanconi-Debre syndrome, and mitochondrial myopathy leading to death.

Address correspondence and reprint requests to Dr. Heiman-Patterson, Department of Neurology, Hahnemann Medical College and Hospital, 230 North Broad Street, Philadelphia, PA 19102.

This work was supported by a Muscular Dystrophy Association Research Fellowship (to Dr. Heiman-Patterson) and by a research center grant from the Muscular Dystrophy Association of America, and by grants Nos. NS 08075, NS 14471, and 5M01RR0040.

Accepted for publication December 21, 1981.

This article has been cited by other articles:

				P. T. Ozand and G. G. Gascon Topical Review Article: Organic Acidurias: A Review. Part 1 J Child Neurol, July 1, 1991; 6(3): 196 - 219. [Abstract] [PDF]

				M. Zeviani, D. H. Van Dyke, S. Servidei, S. C. Bauserman, E. Bonilla, E. T. Beaumont, J. Sharda, K. VanderLaan, and S. DiMauro Myopathy and Fatal Cardiopathy due to Cytochrome c Oxidase Deficiency Arch Neurol, November 1, 1986; 43(11): 1198 - 1202. [Abstract] [PDF]