Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.
Voermans, N C
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy. [electronic resource] - Clinical neuropathology - 71-7 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
0722-5091
Adult
DNA Mutational Analysis
Female
Frameshift Mutation
Humans
Isoelectric Focusing
Magnetic Resonance Imaging
Male
Multienzyme Complexes--genetics
Muscle, Skeletal--enzymology
Myositis, Inclusion Body--genetics
Neuraminidase
Peanut Agglutinin
Polymerase Chain Reaction
Siblings
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy. [electronic resource] - Clinical neuropathology - 71-7 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
0722-5091
Adult
DNA Mutational Analysis
Female
Frameshift Mutation
Humans
Isoelectric Focusing
Magnetic Resonance Imaging
Male
Multienzyme Complexes--genetics
Muscle, Skeletal--enzymology
Myositis, Inclusion Body--genetics
Neuraminidase
Peanut Agglutinin
Polymerase Chain Reaction
Siblings