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Title: The pattern of involvement of adult-onset acid maltase deficiency at autopsy. Author: van der Walt JD, Swash M, Leake J, Cox EL. Journal: Muscle Nerve; 1987; 10(3):272-81. PubMed ID: 2951596. Abstract: 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.[Abstract] [Full Text] [Related] [New Search]