Targeted analysis of the genes associated with LS (Lake et al., 2016) revealed a loss-of-function INDEL frameshift in pyruvate dehydrogenase complex (PDHc) E1 alpha 1 subunit or pyruvate dehydrogenase (PDHA1, c.79delC, p.Arg27fs) in the lines GM03672 and GM13411 (Fig. 1E). The gene discussed is PDHA1; the disease is Leigh syndrome.