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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 5F9D Case 5_008 - Copy

In this closeup image the mitochondrion shows cytoplasmic invagination as well as a dense matrix surrounding pale enlarged cristae. (electron micrographs) ---- Not shown: A Sudan stain shows mild increase in scattered muscle fibers. ---- Comment: The workup was consistent with a diagnosis of TWINKLE (i.e., encoded by the TWNK gene). TWNK is a nuclear-encoded mitochondrial protein that acts as an essential mitochondrial DNA (mtDNA) helicase.

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