000 | 01337 a2200409 4500 | ||
---|---|---|---|
005 | 20250516163629.0 | ||
264 | 0 | _c20140211 | |
008 | 201402s 0 0 eng d | ||
022 | _a1097-4598 | ||
024 | 7 |
_a10.1002/mus.23985 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBergamin, Giorgia | |
245 | 0 | 0 |
_aNovel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2. _h[electronic resource] |
260 |
_bMuscle & nerve _cJan 2014 |
||
300 |
_a145-6 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Letter | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aAged |
650 | 0 | 4 | _aAmino Acid Sequence |
650 | 0 | 4 |
_aCharcot-Marie-Tooth Disease _xdiagnosis |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGTP Phosphohydrolases _xanalysis |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aMitochondrial Proteins _xanalysis |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 |
_aMutation, Missense _xgenetics |
650 | 0 | 4 | _aPedigree |
700 | 1 | _aDalla Torre, Chiara | |
700 | 1 | _aCacciavillani, Mario | |
700 | 1 | _aLucchetta, Marta | |
700 | 1 | _aBoaretto, Francesca | |
700 | 1 | _aCampagnolo, Marta | |
700 | 1 | _aMostacciuolo, Maria Luisa | |
700 | 1 | _aBriani, Chiara | |
773 | 0 |
_tMuscle & nerve _gvol. 49 _gno. 1 _gp. 145-6 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/mus.23985 _zAvailable from publisher's website |
999 |
_c22989262 _d22989262 |