Article
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Human mutation - 1 Jul 2006
Bruno Claudio, Cassandrini Denise, Martinuzzi Andrea, Toscano Antonio, Moggio Maurizio, Morandi Lucia, Servidei Serena, Mongini Tiziana, Angelini Corrado, Musumeci Olimpia, Comi Giacomo P, Lamperti Costanza, Filosto Massimiliano, Zara Federico, Minetti Carlo
Abstract excerpt
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 recurrent myoglobinuria. To date, 46 mutations in the PYGM gene have been detected in GSD-V patients. We report the...
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