| 000 | 01299 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250517083454.0 | ||
| 264 | 0 | _c20170103 | |
| 008 | 201701s 0 0 eng d | ||
| 022 | _a1873-2364 | ||
| 024 | 7 |
_a10.1016/j.nmd.2016.02.010 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBiasini, F | |
| 245 | 0 | 0 |
_aTRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature. _h[electronic resource] |
| 260 |
_bNeuromuscular disorders : NMD _c |
||
| 300 |
_a312-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Review | ||
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aEarly Diagnosis |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscular Atrophy, Spinal _xdiagnosis |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aSkeleton _xabnormalities |
| 650 | 0 | 4 |
_aTRPV Cation Channels _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aPortaro, S | |
| 700 | 1 | _aMazzeo, A | |
| 700 | 1 | _aVita, G | |
| 700 | 1 | _aFabrizi, G M | |
| 700 | 1 | _aTaioli, F | |
| 700 | 1 | _aToscano, A | |
| 700 | 1 | _aRodolico, C | |
| 773 | 0 |
_tNeuromuscular disorders : NMD _gvol. 26 _gno. 4-5 _gp. 312-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.nmd.2016.02.010 _zAvailable from publisher's website |
| 999 |
_c25801024 _d25801024 |
||