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A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease

✍ Scribed by Paul J. Isackson; Mark Tarnopolsky; Georgirene D. Vladutiu


Book ID
116987630
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
410 KB
Volume
85
Category
Article
ISSN
1096-7192

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McArdle disease: the mutation spectrum o
✍ Claudio Bruno; Denise Cassandrini; Andrea Martinuzzi; Antonio Toscano; Maurizio πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 147 KB πŸ‘ 1 views

Deficiency of the muscle isozyme of glycogen phosphorylase is causative of McArdle disease or Glycogen storage disease type V (GSD-V), the most common autosomal recessive disorder of glycogen metabolism. The typical clinical presentation is characterized by exercise intolerance with cramps, and recu