| 000 | 01743 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250513124053.0 | ||
| 264 | 0 | _c19970917 | |
| 008 | 199709s 0 0 eng d | ||
| 022 | _a0028-3878 | ||
| 024 | 7 |
_a10.1212/wnl.49.2.579 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTachi, N | |
| 245 | 0 | 0 |
_aDeficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin. _h[electronic resource] |
| 260 |
_bNeurology _cAug 1997 |
||
| 300 |
_a579-83 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 | _aCalcium-Binding Proteins |
| 650 | 0 | 4 |
_aCytoskeletal Proteins _xdeficiency |
| 650 | 0 | 4 | _aDystroglycans |
| 650 | 0 | 4 |
_aDystrophin _xgenetics |
| 650 | 0 | 4 | _aDystrophin-Associated Proteins |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHistocytochemistry |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunohistochemistry |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLaminin _xdeficiency |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 |
_aMembrane Glycoproteins _xdeficiency |
| 650 | 0 | 4 |
_aMembrane Proteins _xdeficiency |
| 650 | 0 | 4 |
_aMuscle Proteins _xdeficiency |
| 650 | 0 | 4 |
_aMuscular Dystrophies _xcongenital |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aRNA, Messenger _xmetabolism |
| 650 | 0 | 4 | _aTranscription, Genetic |
| 700 | 1 | _aOhya, K | |
| 700 | 1 | _aChiba, S | |
| 700 | 1 | _aMatsuo, M | |
| 700 | 1 | _aPatria, S Y | |
| 700 | 1 | _aMatsumura, K | |
| 773 | 0 |
_tNeurology _gvol. 49 _gno. 2 _gp. 579-83 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1212/wnl.49.2.579 _zAvailable from publisher's website |
| 999 |
_c9250084 _d9250084 |
||