ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

Figure 4

Light microscopy of patients with TMEM70 mutations. (a, c, e, g): child I, Gomori, ATPase, Oil Red O, and COX; (b, d, f, h): child II, Gomori, ATPase, Oil Red O, and COX/SDH. Muscle biopsies were snap-frozen and stained according to routine protocols. Apart from varying fibre size in child II, muscle tissues appear mainly unremarkable. The specimens especially lack typical histological hallmarks of mitochondriopathies such as ragged-red fibres or COX-deficient fibres.

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