Journal article

DOMINANTLY INHERITED CARDIOSKELETAL MYOPATHY WITH LYSOSOMAL GLYCOGEN-STORAGE AND NORMAL ACID MALTASE LEVELS

E BYRNE, X DENNETT, B CROTTY, I TROUNCE, JM SANDS, R HAWKINS, J HAMMOND, S ANDERSON, EA HAAN, A POLLARD

BRAIN | OXFORD UNIV PRESS | Published : 1986

Abstract

A family is presented in which 7 members over 3 generations were affected by cardioskeletal myopathy. A vacuolar myopathy with excessive free and intralysosomal glycogen storage in skeletal and cardiac striated muscle was identified in biopsy studies. Post-mortem studies in several patients revealed changes of a congestive cardiomyopathy with myocardial fibrosis. Acid maltase, phosphorylase, debrancher and lysosomal enzyme screens, and glycolytic enzyme levels in skeletal muscle, were normal in 1 case. This is the third report of non-acid maltase deficient lysosomal glycogen storage disease and adds to previous reports with the presentation of detailed family studies, examined of ante- and p..

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University of Melbourne Researchers