| 000 | 01598 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250514203916.0 | ||
| 264 | 0 | _c20050518 | |
| 008 | 200505s 0 0 eng d | ||
| 022 | _a1526-632X | ||
| 024 | 7 |
_a10.1212/01.wnl.0000138498.66940.7f _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPrandini, P | |
| 245 | 0 | 0 |
_aLAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy. _h[electronic resource] |
| 260 |
_bNeurology _cSep 2004 |
||
| 300 |
_a1118-21 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aBiopsy |
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 6 _xgenetics |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aLaminin _xanalysis |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xchemistry |
| 650 | 0 | 4 |
_aMuscular Dystrophies _xcongenital |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aBerardinelli, A | |
| 700 | 1 | _aFanin, M | |
| 700 | 1 | _aMorello, F | |
| 700 | 1 | _aZardini, E | |
| 700 | 1 | _aPichiecchio, A | |
| 700 | 1 | _aUggetti, C | |
| 700 | 1 | _aLanzi, G | |
| 700 | 1 | _aAngelini, C | |
| 700 | 1 | _aPegoraro, E | |
| 773 | 0 |
_tNeurology _gvol. 63 _gno. 6 _gp. 1118-21 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1212/01.wnl.0000138498.66940.7f _zAvailable from publisher's website |
| 999 |
_c15144764 _d15144764 |
||