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The pattern of involvement of adult‐onset acid maltase deficiency at autopsy
Author(s) -
van der Walt Jon D.,
Swash Michael,
Leake Janet,
Cox Elaine L.
Publication year - 1987
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880100311
Subject(s) - myopathy , autopsy , skeletal muscle , anatomy , basophilic , glycogen storage disease , tongue , pathology , biology , extraocular muscles , medicine , endocrinology , glycogen
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.