McArdle disease: molecular genetic update

McArdle disease or Glycogenosis type V is an autosomal recessive metabolic disorder caused by a deficiency of the muscle isoform of glycogen phosphorylase (myophosphorylase, PYGM), the specific skeletal muscle enzyme that initiates glycogen breakdown. Since the first clinical description by Brian Mc...

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Detaylı Bibliyografya
Asıl Yazarlar: Andreu, AL, Nogales-Gadea, G, Cassandrini, D, Arenas, J, Bruno, C
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Pacini Editore SpA 2007
Konular:
Muscle Glycogenoses
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2949323/
https://ncbi.nlm.nih.gov/pubmed/17915571
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