| 000 | 01539 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250517223106.0 | ||
| 264 | 0 | _c20191022 | |
| 008 | 201910s 0 0 eng d | ||
| 022 | _a1873-2364 | ||
| 024 | 7 |
_a10.1016/j.nmd.2018.04.012 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aStrang-Karlsson, Sonja | |
| 245 | 0 | 0 |
_aA novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. _h[electronic resource] |
| 260 |
_bNeuromuscular disorders : NMD _c07 2018 |
||
| 300 |
_a614-618 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aDystroglycans _xmetabolism |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscle Weakness _xgenetics |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xmetabolism |
| 650 | 0 | 4 |
_aMuscular Dystrophies, Limb-Girdle _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aProtein Kinases _xgenetics |
| 650 | 0 | 4 | _aSiblings |
| 700 | 1 | _aJohnson, Katherine | |
| 700 | 1 | _aTöpf, Ana | |
| 700 | 1 | _aXu, Liwen | |
| 700 | 1 | _aLek, Monkol | |
| 700 | 1 | _aMacArthur, Daniel G | |
| 700 | 1 | _aCasar-Borota, Olivera | |
| 700 | 1 | _aWilliams, Maria | |
| 700 | 1 | _aStraub, Volker | |
| 700 | 1 | _aWallgren-Pettersson, Carina | |
| 773 | 0 |
_tNeuromuscular disorders : NMD _gvol. 28 _gno. 7 _gp. 614-618 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.nmd.2018.04.012 _zAvailable from publisher's website |
| 999 |
_c28537711 _d28537711 |
||