| 000 | 01677 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250515115502.0 | ||
| 264 | 0 | _c20080529 | |
| 008 | 200805s 0 0 eng d | ||
| 022 | _a1128-2460 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKabzińska, D | |
| 245 | 0 | 0 |
_aCharcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. _h[electronic resource] |
| 260 |
_bActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology _cOct 2007 |
||
| 300 |
_a108-11 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aCharcot-Marie-Tooth Disease _xdiagnosis |
| 650 | 0 | 4 |
_aGTP Phosphohydrolases _xgenetics |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLeucine |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 |
_aMembrane Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aMitochondrial Membrane Transport Proteins |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMuscular Atrophy |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPoland |
| 650 | 0 | 4 | _aProline |
| 700 | 1 | _aSaifi, G M | |
| 700 | 1 | _aDrac, H | |
| 700 | 1 | _aRowińska-Marcińska, K | |
| 700 | 1 | _aHausmanowa-Petrusewicz, I | |
| 700 | 1 | _aKochański, A | |
| 700 | 1 | _aLupski, J R | |
| 773 | 0 |
_tActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology _gvol. 26 _gno. 2 _gp. 108-11 |
|
| 999 |
_c17919497 _d17919497 |
||