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