Fig. 1 | European Journal of Human Genetics

Fig. 1

From: Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

Fig. 1

Clinical and histopathological features. a–f Clinical manifestations of patient 1 (a, b) patient 2 (c, d) and patient 3 (e, f) showing similar aspects of severe distal amyotrophy and paralysis of hands and feet; note gastrostomy in patient 2 (d). Figure g and h correspond to muscle pathology of patient 1, with seriate sections stained for cytochrome c oxidase (COX) (g) and succinate dehydrogenase (SDH) (h) showing COX negative fibers with marked mitochondrial proliferation on SDH staining. Figures il illustrate nerve pathology, with electron microscopy images of patient 2 (i) obtained late in the disease course, and of patient 1 (j, k) and light microscopy of semithin sections of patient 1 obtained at early stages of the disease at age 9 years. (l) Figure 1i shows a single myelinated axon with relative thin myelin; this was a single myelinated axon found in the nerve biopsy of patient 2 at the age of 25 years, that besides showed a marked subtotal loss of myelinated axons. Figure 1j shows a demyelinated fiber, and Fig. 1k shows a demyelinated fiber with aspects of degeneration and myelinophagia. Figure 1l shows reduced number of myelinated axons, some of which show a thinner myelin in relation to the axonal diameter

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