TY  - GEN
AU  - Kim,D S
AU  - Hayashi,Y K
AU  - Matsumoto,H
AU  - Ogawa,M
AU  - Noguchi,S
AU  - Murakami,N
AU  - Sakuta,R
AU  - Mochizuki,M
AU  - Michele,D E
AU  - Campbell,K P
AU  - Nonaka,I
AU  - Nishino,I
TI  - POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG
SN  - 1526-632X
PY  - 2004///0719
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Action Potentials
KW  - Brain
KW  - abnormalities
KW  - Child, Preschool
KW  - Conserved Sequence
KW  - Creatine Kinase
KW  - blood
KW  - Cytoskeletal Proteins
KW  - deficiency
KW  - DNA Mutational Analysis
KW  - Dystroglycans
KW  - Electroencephalography
KW  - Eye Abnormalities
KW  - Humans
KW  - Immunoblotting
KW  - Immunohistochemistry
KW  - Japan
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mannosyltransferases
KW  - Membrane Glycoproteins
KW  - Muscular Dystrophies
KW  - congenital
KW  - Nervous System Malformations
KW  - diagnosis
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1212/01.wnl.0000115386.28769.65
ER  -