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Lack of Some Muscle Proteins in Serum of Patients With Duchenne Dystrophy
Lewis P. Rowland, MD;
Robert B. Layzer, MD;
Lawrence J. Kagen, MD
Arch Neurol. 1968;18(3):272-276.
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AN'abnormal increase in the activity of several serum enzymes is one clue to the nature of the biochemical abnormality in Duchenne muscular dystrophy. The increased serum enzyme activity is thought to occur because enzyme protein molecules are released from muscle, and it has been inferred that the fundamental disorder is an abnormality of the muscle membrane which permits pathological leakage of large molecules. If this were true, it might be expected that other cytoplasmic constituents of muscle would also be found in the serum.
We have been studying phosphofructokinase (PFK), phosphorylase (PPL), and myoglobin in normal human muscle diseases. Appropriate techniques were applied to the serum of patients with Duchenne dystrophy but PFK and myoglobin were not found at all and the activities of PPL were very low, as will be described in detail.
Methods
The patients were all ambulatory males below age 10 years, with overt manifestations of
. . . [Full Text PDF of this Article]
Author Affiliations
New York
From the departments of neurology and medicine, College of Physicians and Surgeons, Columbia University, and the Neurological Clinical Research Center, Neurological Institute, Columbia-Presbyterian Medical Center, New York. Dr. Rowland is not at the Hospital of the University of Pennsylvania, Philadelphia. Dr. Layzer is now at the University of California School of Medicine, San Francisco.
Footnotes
Submitted for publication Aug 24, 1967; accepted Oct. 6.
Reprint requests to 3400 Spruce St, Philadelphia 19104 (Dr. Rowland).
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