| 000 | 01750 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250514231911.0 | ||
| 264 | 0 | _c20050719 | |
| 008 | 200507s 0 0 eng d | ||
| 022 | _a0022-3050 | ||
| 024 | 7 |
_a10.1136/jnnp.2004.046110 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBenedetti, S | |
| 245 | 0 | 0 |
_aDominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. _h[electronic resource] |
| 260 |
_bJournal of neurology, neurosurgery, and psychiatry _cJul 2005 |
||
| 300 |
_a1019-21 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBiopsy |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLamin Type A |
| 650 | 0 | 4 |
_aLamins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xinnervation |
| 650 | 0 | 4 |
_aMuscular Atrophy _xdiagnosis |
| 650 | 0 | 4 |
_aMuscular Dystrophy, Emery-Dreifuss _xdiagnosis |
| 650 | 0 | 4 | _aNeurologic Examination |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPeripheral Nervous System Diseases _xdiagnosis |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSural Nerve _xpathology |
| 700 | 1 | _aBertini, E | |
| 700 | 1 | _aIannaccone, S | |
| 700 | 1 | _aAngelini, C | |
| 700 | 1 | _aTrisciani, M | |
| 700 | 1 | _aToniolo, D | |
| 700 | 1 | _aSferrazza, B | |
| 700 | 1 | _aCarrera, P | |
| 700 | 1 | _aComi, G | |
| 700 | 1 | _aFerrari, M | |
| 700 | 1 | _aQuattrini, A | |
| 700 | 1 | _aPrevitali, S C | |
| 773 | 0 |
_tJournal of neurology, neurosurgery, and psychiatry _gvol. 76 _gno. 7 _gp. 1019-21 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jnnp.2004.046110 _zAvailable from publisher's website |
| 999 |
_c15623679 _d15623679 |
||