Figure 1.

Identification of novel mt-tRNA^Ala variants (a) Sequencing electropherogram (reverse sequence) demonstrating the heteroplasmic m.5631G>A transition detected in patient muscle. (b) Sequencing electropherogram demonstrating the heteroplasmic m.5610G>A transition detected in muscle. (c) Schematic representation of the mt-RNA^Ala cloverleaf structure, illustrating the position of the novel m.5631G>A and m.5610G>A variants and other reported mt-tRNA^Ala mutations. Phylogenetic conservation of the appropriate regions of the mt-tRNA^Ala gene sequence for both (d) m.5631G>A and (e) m.5610G>A indicates that both variants affect an evolutionary conserved residue.