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