Abstract
The authors discuss a new study showing that carriers of the mutation PPP1R3A show decreased muscle glycogen levels.
MeSH terms
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Animals
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Cardiomyopathies / enzymology
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Cardiomyopathies / genetics
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Cardiomyopathies / physiopathology
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Codon, Nonsense
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Diabetes Mellitus, Type 2 / enzymology*
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Exercise
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Frameshift Mutation
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Gene Frequency
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Glycogen / analysis
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Glycogen / biosynthesis*
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Glycogen Phosphorylase / metabolism
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Glycogen Synthase / genetics
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Glycogen Synthase / metabolism
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Heart / physiopathology
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Humans
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Infant, Newborn
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Insulin / physiology*
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Insulin Resistance
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Mice
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Muscle, Skeletal / chemistry
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Muscle, Skeletal / enzymology*
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Myocardium / enzymology
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Organ Specificity
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Phosphoprotein Phosphatases / genetics
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Phosphoprotein Phosphatases / physiology*
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United Kingdom
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White People / genetics
Substances
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Codon, Nonsense
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Insulin
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Glycogen
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Glycogen Phosphorylase
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Glycogen Synthase
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PPP1R3A protein, human
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Phosphoprotein Phosphatases