000 01912 a2200589 4500
005 20250514182915.0
264 0 _c20040719
008 200407s 0 0 eng d
022 _a1526-632X
024 7 _a10.1212/01.wnl.0000115386.28769.65
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aKim, D S
245 0 0 _aPOMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.
_h[electronic resource]
260 _bNeurology
_cMar 2004
300 _a1009-11 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAbnormalities, Multiple
_xgenetics
650 0 4 _aAction Potentials
650 0 4 _aBrain
_xabnormalities
650 0 4 _aChild, Preschool
650 0 4 _aConserved Sequence
650 0 4 _aCreatine Kinase
_xblood
650 0 4 _aCytoskeletal Proteins
_xdeficiency
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDystroglycans
650 0 4 _aElectroencephalography
650 0 4 _aEye Abnormalities
_xgenetics
650 0 4 _aHumans
650 0 4 _aImmunoblotting
650 0 4 _aImmunohistochemistry
650 0 4 _aJapan
650 0 4 _aMagnetic Resonance Imaging
650 0 4 _aMale
650 0 4 _aMannosyltransferases
_xgenetics
650 0 4 _aMembrane Glycoproteins
_xdeficiency
650 0 4 _aMuscular Dystrophies
_xcongenital
650 0 4 _aNervous System Malformations
_xdiagnosis
650 0 4 _aSyndrome
700 1 _aHayashi, Y K
700 1 _aMatsumoto, H
700 1 _aOgawa, M
700 1 _aNoguchi, S
700 1 _aMurakami, N
700 1 _aSakuta, R
700 1 _aMochizuki, M
700 1 _aMichele, D E
700 1 _aCampbell, K P
700 1 _aNonaka, I
700 1 _aNishino, I
773 0 _tNeurology
_gvol. 62
_gno. 6
_gp. 1009-11
856 4 0 _uhttps://doi.org/10.1212/01.wnl.0000115386.28769.65
_zAvailable from publisher's website
999 _c14755058
_d14755058