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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Broadening the phenotype of the TWNK gene associated Perrault syndrome

Fig. 2

Electron microscopic pictures of the sural nerve biopsy specimen. a Complex group of degenerated and regenerated myelinated fibers. In one myelinated fiber, adaxonal vacuole is present, in another one, a myelin-like figure can be observed. × 8400. b Vesicular widening of the myelin in the region of a Schmidt-Lanterman cleft. In the Schwann cell and in the axon, slightly enlarged mitochondria (white arrows) are present. The myelin sheaths are slightly decompacted (dotted arrows). × 20.000 C. In a Schwann cell, a pi granula is present. × 16.000

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