Figure 2

Gene sequences of four novel variants in BCKDHA and BCKDHB genes in eight pedigrees: c.841G>C(p.Gly281Arg) in BCKDHA gene (a), c.284G>C(p.Gly95Ala) in BCKDHB gene (b), c.511T>C(p.Ser171Pro) in BCKDHB gene (c), c.665A>C(p.Lys222Thr) in BCKDHB gene (d).