Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases (original) (raw)
Figure 1
Genetic analysis of family with early onset spastic ataxia-neuropathy syndrome.
(A) Pedigree of family. (B) Sequencing of the c.1847G>A; p.Y616C AFG3L2 mutation in family members. (C) Alignment of amino acid sequences from AFG3L2 of several vertebrate species indicates that Y616 and the flanking residues are highly conserved.