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Phenotypic variability in a cohort of 40 Italian subjects carrying mutations in the geneEDA

✍ Scribed by Guazzarotti, L; Tadini, G; Mancini, GE; Giglio, S; Sani, I; Nannini, P; Bosoni, M; Bottero, A; Caimi, A; Morelli, M; Zuccotti, GV


Book ID
115023021
Publisher
Springer (Biomed Central Ltd.)
Year
2012
Tongue
English
Weight
73 KB
Volume
8
Category
Article
ISSN
1746-160X

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✍ 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