Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase
Language English Country Germany Media print
Document type Case Reports, Journal Article, Review
PubMed
8236826
DOI
10.1007/bf01606895
Knihovny.cz E-resources
- MeSH
- Microscopy, Electron MeSH
- Fatal Outcome MeSH
- Phosphorylase Kinase deficiency MeSH
- Glycogen Storage Disease etiology pathology MeSH
- Cardiomyopathy, Hypertrophic diagnostic imaging etiology MeSH
- Infant MeSH
- Humans MeSH
- Radiography MeSH
- Check Tag
- Infant MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Review MeSH
- Names of Substances
- Phosphorylase Kinase MeSH
We describe here a male infant with a rare form of glycogenosis caused by deficiency of heart specific phosphorylase b kinase. The disease phenotype was characterized by severe glycogenosis restricted to the heart muscle with secondary rapidly progressive hypertrophic cardiomyopathy causing death at the age of 47 days.
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