Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

(2013) Emma L. Blakely et al.   HUMAN MUTATION

A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations

(2012) John W. Yarham et al.   MITOCHONDRION

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

(2010) Helen A. L. Tuppen et al.   BRAIN

A novel mutation in the mitochondrial tRNAAla gene (m.5636T>C) in a patient with progressive external ophthalmoplegia

(2010) Tomàs Pinós et al.   MITOCHONDRION

Mitochondrial tRNA mutations and disease

(2010) John W. Yarham et al.   Wiley Interdisciplinary Reviews-RNA

Mitochondrial DNA mutations and human disease

(2009) Helen A.L. Tuppen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

(2007) Robert McFarland et al.   NEUROMUSCULAR DISORDERS