Figure 1.

Mutation in MT‐TS1 in a family with mitochondrial disorder. (a) Family pedigree. Solid symbol, proband with a complex neurologic phenotype; lined symbol, family member with neurologic symptoms in addition to HI; grey symbol, pure HI; open symbol, data not available (n.a.). (b) Sequence chromatograms showing variable heteroplasmy. WT, wild type. (c) Histochemical stainings of samples from m. vastus lateralis. COX‐SDH, cytochrome c oxidase and succinate dehydrogenase; H&E, hematoxylin and eosin. Arrow indicates a ragged‐red fiber