TY  - GEN
AU  - Voermans,N C
AU  - Guillard,M
AU  - Doedée,R
AU  - Lammens,M
AU  - Huizing,M
AU  - Padberg,G W
AU  - Wevers,R A
AU  - van Engelen,B G
AU  - Lefeber,D J
TI  - Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy
SN  - 0722-5091
PY  - 2010///0521
KW  - Adult
KW  - DNA Mutational Analysis
KW  - Female
KW  - Frameshift Mutation
KW  - Humans
KW  - Isoelectric Focusing
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Multienzyme Complexes
KW  - genetics
KW  - Muscle, Skeletal
KW  - enzymology
KW  - Myositis, Inclusion Body
KW  - Neuraminidase
KW  - Peanut Agglutinin
KW  - Polymerase Chain Reaction
KW  - Siblings
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
ER  -