 |
 |

Muscle Adenylate Deaminase DeficiencyReport of Six New Cases
Nirmal C. Kar, PhD;
Carl M. Pearson, MD
Arch Neurol. 1981;38(5):279-281.
Abstract
We describe six adult patients (five men and one woman) out of 364 whose muscle biopsy specimens disclosed muscle adenylate deaminase deficiency. Two men had an associated dermatomyositis and another man had an associated progressive systemic sclerosis. Although the patients were different clinically, all complained of muscular weakness or poor exercise tolerance. The occurrence of muscle adenylate deaminase deficiency in both sexes suggests a possible autosomal mode of inheritance.
Author Affiliations
From the Jerry Lewis Neuromuscular Research Center and the Department of Medicine, UCLA School of Medicine, Los Angeles.
Footnotes
Accepted for publication Aug 15, 1980.
Reprint requests to Jerry Lewis Neuromuscular Research Center, UCLA School of Medicine, 700 Westwood Plaza, Los Angeles, CA 90024 (Dr Kar).
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Regulation of skeletal muscle ATP catabolism by AMPD1 genotype during sprint exercise in asymptomatic subjects
Norman et al.
J. Appl. Physiol. 2001;91:258-264.
ABSTRACT
| FULL TEXT
|