Human mt tRNAs & Pathologies

Pathogenic & polymorphic mutations
in human mt tRNA genes


Pathogenic & polymorphic mutations updated from :

Kogelnik, A.M., Lott, M.T. et al. (1998). "MITOMAP: a human mitochondrial genome database -1998 update." Nucleic Acids Res. 26: 112-5.
Servidei, S. (2002). "Mitochondrial encephalomyopathies: gene mutation." Neuromuscul Disord. 12: 524-9.