Fig. 1
From: Broadening the phenotype of the TWNK gene associated Perrault syndrome
Neuropathological investigations. a Predominantly neurogenic alteration can be observed in the muscle tissue (large caliber variation, angular atrophic muscle fibers) H&E staining X250. b In the semithin section, many muscle fibers contained centrally numerous small vacuoles. Semi-thin section X350. c Electron microscopic picture of the muscle specimen. Lipid vacuoles are attached to the mitochondria. x d Enlarged mitochondria with abnormal cristae in the muscle tissue. × 24,000