Title: | Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction |
Journal : | BMC medical genomics, 14, 1 |
Authors: | Berti B ; Longo G ; Mari F ; Doccini S ; Piccolo I ; Donati MA ; Moro F ; Guerrini R ; Santorelli FM ; Petruzzella V |
Material Type: | Article |
Publication Date: | 12/06/2021 |
Size: | p 157 |
Languages: | English |
Keywords : | case studies ; Charcot-Marie-Tooth disease ; children ; clinical presentation ; CMT4B3 ; female ; Italy ; mitochondrial diseases |
Keywords: | Case report;Charcot-Marie-Tooth 4B3;MTMR5/SBF1;Mitochondrial diseases;Next-generation sequencing; |
Pubmed / DOI : | Pubmed : 34118926 / DOI : 10.1186/s12920-021-01001-1 |
N° Profil MNM : | 2021061 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/34118926 |