No abstract available
MeSH terms
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Amyloid beta-Peptides / metabolism
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DNA Mutational Analysis
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Female
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Glycogen Storage Disease Type V / genetics
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Glycogen Storage Disease Type V / pathology*
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Glycogen Storage Disease Type V / physiopathology*
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Humans
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Immunohistochemistry
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Male
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Microscopy, Electron
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Middle Aged
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Mothers
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Multienzyme Complexes / genetics
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Muscle, Skeletal / diagnostic imaging
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Muscle, Skeletal / metabolism
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Mutation
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Myositis, Inclusion Body / genetics
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Myositis, Inclusion Body / pathology*
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Myositis, Inclusion Body / physiopathology*
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Phosphorylases / genetics
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Phosphorylation
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Siblings
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Ultrasonography
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tau Proteins / metabolism
Substances
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Amyloid beta-Peptides
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MAPT protein, human
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Multienzyme Complexes
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UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
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tau Proteins
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Phosphorylases