The pattern of involvement of adult-onset acid maltase deficiency at autopsy
Version of Record online: 13 OCT 2004
Copyright © 1987 John Wiley & Sons, Inc.
Muscle & Nerve
Volume 10, Issue 3, pages 272–281, March/April 1987
How to Cite
van der Walt, J. D., Swash, M., Leake, J. and Cox, E. L. (1987), The pattern of involvement of adult-onset acid maltase deficiency at autopsy. Muscle Nerve, 10: 272–281. doi: 10.1002/mus.880100311
- Issue online: 13 OCT 2004
- Version of Record online: 13 OCT 2004
- Manuscript Accepted: 29 MAY 1986
- Manuscript Received: 4 NOV 1985
The autopsy findings in a clinically and biochemically documented case of adult-onset acid maltase deficiency presenting with limb girdle myopathy are presented. The skeletal muscles, tongue, extraocular and smooth muscles of gut and arterioles showed a vacuolar myopathy, most severely affecting proximal skeletal muscles. Muscle spindles were severely affected in all muscles. The heart showed basophilic degeneration and a vacuolar myopathy. The visceral organs and nervous system were morphologically normal. Possible mechanisms for this differential involvement of muscles and tissues are discussed.