| 000 | 01325 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250516130922.0 | ||
| 264 | 0 | _c20130815 | |
| 008 | 201308s 0 0 eng d | ||
| 022 | _a1873-2364 | ||
| 024 | 7 |
_a10.1016/j.nmd.2012.12.004 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLevesque, L | |
| 245 | 0 | 0 |
_aA de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations. _h[electronic resource] |
| 260 |
_bNeuromuscular disorders : NMD _cMar 2013 |
||
| 300 |
_a239-42 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aActins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xpathology |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aMyopathies, Nemaline _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 700 | 1 | _aDel Bigio, M R | |
| 700 | 1 | _aKrawitz, S | |
| 700 | 1 | _aMhanni, A A | |
| 773 | 0 |
_tNeuromuscular disorders : NMD _gvol. 23 _gno. 3 _gp. 239-42 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.nmd.2012.12.004 _zAvailable from publisher's website |
| 999 |
_c22408877 _d22408877 |
||