POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.

Kim, D S

POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. [electronic resource] - Neurology Mar 2004 - 1009-11 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1526-632X

10.1212/01.wnl.0000115386.28769.65 doi


Abnormalities, Multiple--genetics
Action Potentials
Brain--abnormalities
Child, Preschool
Conserved Sequence
Creatine Kinase--blood
Cytoskeletal Proteins--deficiency
DNA Mutational Analysis
Dystroglycans
Electroencephalography
Eye Abnormalities--genetics
Humans
Immunoblotting
Immunohistochemistry
Japan
Magnetic Resonance Imaging
Male
Mannosyltransferases--genetics
Membrane Glycoproteins--deficiency
Muscular Dystrophies--congenital
Nervous System Malformations--diagnosis
Syndrome