Title : Missense mutations have unexpected consequences: The McArdle disease paradigm.

Pub. Date : 2018 Oct

PMID : 30011114






1 Functional Relationships(s)
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1 McArdle disease is a disorder of muscle glycogen metabolism caused by mutations in the PYGM gene, encoding for the muscle-specific isoform of glycogen phosphorylase (M-GP). Glycogen glycogen phosphorylase, muscle associated Homo sapiens