The 'muscular variant' of Pompe disease: Clinical, biochemical and histologic characteristics

J. K. Temple, D. W. Dunn, M. G. Blitzer, E. Shapira

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

We report on a 2-yr-old boy with progressive muscular weakness and respiratory failure. There was no clinical evidence of heart muscle involvement. 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 α-1,4-glucosidase 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.

Original languageEnglish (US)
Pages (from-to)597-604
Number of pages8
JournalAmerican journal of medical genetics
Volume21
Issue number3
DOIs
StatePublished - Jan 1 1985
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'The 'muscular variant' of Pompe disease: Clinical, biochemical and histologic characteristics'. Together they form a unique fingerprint.

  • Cite this