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Autopsy showed marked intralysosomal glycogen deposition in skeletal muscle and liver with no histological evidence of glycogen deposition in cardiac muscle. The activity of the lysosomal enzyme \u03b1\u20101,4\u2010glucosidase was deficient in skin fibroblasts, skeletal muscle, cardiac muscle, and liver; however, the enzymatic activity in peripheral blood leukocytes was in the low normal range. The child's mother had normal enzymatic activity in leukocytes but heterozygote levels in skin fibroblasts.<\/jats:p>","DOI":"10.1002\/ajmg.1320210322","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:59:15Z","timestamp":1118505555000},"page":"597-604","source":"Crossref","is-referenced-by-count":13,"title":["The \u201cmuscular variant\u201d of Pompe disease: Clinical, biochemical and histologic characteristics"],"prefix":"10.1002","volume":"21","author":[{"given":"Julia K.","family":"Temple","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W.","family":"Dunn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam 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