Title: | A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features |
Journal : | Neuromuscular disorders : NMD |
Authors: | Lim AZ ; McMacken G ; Rastelli F ; Olahova M ; Baty K ; Hopton S ; Falkous G ; Topf A ; Lochmuller H ; Marini-Bettolo C ; McFarland R ; Taylor RW |
Material Type: | Article |
Publisher: | England, 06/2020 |
Languages: | English |
Keywords: | Congenital myasthenia syndromes (CMS);MTTY gene;Mitochondrial disease;Muscle biopsy;mtDNA tRNA variant; |
Pubmed / DOI : | Pubmed : 32684384 / DOI : 0.1016/j.nmd.2020.06.008 |
N° Profil MNM : | 2020072 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/32684384 |
See also : |