McArdle Disease: New Insights into Its Underlying Molecular Mechanisms

McArdle disease, also known as glycogen storage disease type V (GSDV), is characterized by exercise intolerance, the second wind phenomenon, and high serum creatine kinase activity. Here, we recapitulate PYGM mutations in the population responsible for this disease. Traditionally, McArdle disease ha...

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Veröffentlicht in:Int J Mol Sci
Hauptverfasser: Llavero, Francisco, Arrazola Sastre, Alazne, Luque Montoro, Miriam, Gálvez, Patricia, Lacerda, Hadriano M, Parada, Luis A., Zugaza, José Luis
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2019
Schlagworte:
Review
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6929006/
https://ncbi.nlm.nih.gov/pubmed/31775340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20235919
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