Titre : | Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation |
Revue : | Journal of neurology |
Auteurs : | Khani M ; Taheri H ; Shamshiri H ; Moazzeni H ; Hardy J ; Bras JT ; InanlooRahatloo K ; Alavi A ; Nafissi S ; Elahi E |
Type de document : | Article |
Editeur : | Germany, 2020 |
Langues: | Anglais |
Mots-clés: | Axonal CMT;CMT2;Charcot–Marie–Tooth disease;GDAP1;HADHA;Intronic mutation; |
Pubmed / DOI : | Pubmed : 32897397 / DOI : 10.1007/s00415-020-10171-4 |
N° Profil MNM : | 2020091 |
En ligne : | http://www.ncbi.nlm.nih.gov/pubmed/32897397 |