| 000 | 01338 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250514230122.0 | ||
| 264 | 0 | _c20050725 | |
| 008 | 200507s 0 0 eng d | ||
| 022 | _a0960-8966 | ||
| 024 | 7 |
_a10.1016/j.nmd.2005.03.010 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTulinius, Már | |
| 245 | 0 | 0 |
_aNovel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion. _h[electronic resource] |
| 260 |
_bNeuromuscular disorders : NMD _cJun 2005 |
||
| 300 |
_a412-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBiopsy |
| 650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aMitochondrial Myopathies _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 |
_aThymidine Kinase _xgenetics |
| 700 | 1 | _aMoslemi, Ali-Reza | |
| 700 | 1 | _aDarin, Niklas | |
| 700 | 1 | _aHolme, Elisabeth | |
| 700 | 1 | _aOldfors, Anders | |
| 773 | 0 |
_tNeuromuscular disorders : NMD _gvol. 15 _gno. 6 _gp. 412-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.nmd.2005.03.010 _zAvailable from publisher's website |
| 999 |
_c15569259 _d15569259 |
||