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 Google Scholar Google Scholar Articles by FEIT, H. Articles by BROOKE, M. H. Search for Related Content PubMed PubMed Citation Articles by FEIT, H. Articles by BROOKE, M. H.

Myophosphorylase deficiency

Two different molecular etiologies

From the Department of Neurology, University of Colorado Medical Center, 4200 East Ninth Avenue, Denver, Colorado.

Two different forms of myophosphorylase deficiency (McArdle's disease) can be distinguished through the presence or absence of the protein subunit corresponding to phosphorylase in muscle extracts analyzed by sodium dodecyl sulfate (SDS)polyacrylamide gel electrophoresis. Two patients showed a complete absence of the phosphorylase protein subunit, while another patient had an increased quantity of an apparently defective phosphorylase protein subunit. On the basis of these observations, the existence of two distinct subtypes of phosphorylase deficiency can be inferred.

Dr. Brooke's address is Department of Neurology, Box 8111, Washington University Medical School, 660 South Euclid Avenue, St. Louis, Missouri 63110.

Dr. Feit's present address is Department of Neurology, Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, Texas 75235.

Presented in part as the S. Weir Mitchell Award Lecture at the twenty-seventh Annual Meeting of the American Academy of Neurology, Bal Harbour, Florida, May 2, 1975.

Supported in part by a grant from the Muscular Dystrophy Association.

Received for publication October 30, 1975.