Prevalence (%) of clinical parameters based on data from 3 references describing 31 individuals Add new symptom/sign to this disease
List of symptoms
List of references: Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. A Saada, A Shaag, H Mandel, Y Nevo, S Eriksson, O Elpeleg, Nature genetics - Nov 2001 Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. Alexandra Götz, Pirjo Isohanni, Helena Pihko, Anders Paetau, Riitta Herva, Outi Saarenpää-Heikkilä, Leena Valanne, Sanna Marjavaara, Anu Suomalainen, Brain : a journal of neurology - Nov 2008 Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. M Mancuso, L Salviati, S Sacconi, D Otaegui, P Camaño, A Marina, S Bacman, C T Moraes, J R Carlo, M Garcia, M Garcia-Alvarez, L Monzon, A B Naini, M Hirano, E Bonilla, A L Taratuto, S DiMauro, T H Vu, Neurology - Oct 2002 |