| 000 | 01632 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250516222247.0 | ||
| 264 | 0 | _c20150710 | |
| 008 | 201507s 0 0 eng d | ||
| 022 | _a1532-2130 | ||
| 024 | 7 |
_a10.1016/j.ejpn.2014.06.005 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCastro-Gago, Manuel | |
| 245 | 0 | 0 |
_aExome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. _h[electronic resource] |
| 260 |
_bEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society _cNov 2014 |
||
| 300 |
_a796-800 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCholine Kinase _xgenetics |
| 650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xcomplications |
| 650 | 0 | 4 |
_aMitochondrial Myopathies _xcomplications |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aSpain |
| 700 | 1 | _aDacruz-Alvarez, David | |
| 700 | 1 | _aPintos-Martínez, Elena | |
| 700 | 1 | _aBeiras-Iglesias, Andrés | |
| 700 | 1 | _aDelmiro, Aitor | |
| 700 | 1 | _aArenas, Joaquín | |
| 700 | 1 | _aMartín, Miguel Ángel | |
| 700 | 1 | _aMartínez-Azorín, Francisco | |
| 773 | 0 |
_tEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society _gvol. 18 _gno. 6 _gp. 796-800 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejpn.2014.06.005 _zAvailable from publisher's website |
| 999 |
_c23983324 _d23983324 |
||