| 000 | 01873 a2200589 4500 | ||
|---|---|---|---|
| 005 | 20250515175605.0 | ||
| 264 | 0 | _c20091029 | |
| 008 | 200910s 0 0 eng d | ||
| 022 | _a1460-2156 | ||
| 024 | 7 |
_a10.1093/brain/awp152 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKollberg, Gittan | |
| 245 | 0 | 0 |
_aClinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy. _h[electronic resource] |
| 260 |
_bBrain : a journal of neurology _cAug 2009 |
||
| 300 |
_a2170-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aAconitate Hydratase _xdeficiency |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aBiopsy |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIron-Sulfur Proteins _xdeficiency |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondria, Muscle _xultrastructure |
| 650 | 0 | 4 |
_aMitochondrial Myopathies _xgenetics |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xdeficiency |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xpathology |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPolymerase Chain Reaction _xmethods |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 |
_aReverse Transcriptase Polymerase Chain Reaction _xmethods |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aTulinius, Már | |
| 700 | 1 | _aMelberg, Atle | |
| 700 | 1 | _aDarin, Niklas | |
| 700 | 1 | _aAndersen, Oluf | |
| 700 | 1 | _aHolmgren, Daniel | |
| 700 | 1 | _aOldfors, Anders | |
| 700 | 1 | _aHolme, Elisabeth | |
| 773 | 0 |
_tBrain : a journal of neurology _gvol. 132 _gno. Pt 8 _gp. 2170-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/brain/awp152 _zAvailable from publisher's website |
| 999 |
_c18984396 _d18984396 |
||