PMC6559969_01
(a) Difference in diameter between both types of muscle fibers with modified Gomori-trichrome staining (more prominent in the type 1 muscle fibers), increased endomisial connective tissue and intracytoplasmic dark red-blue tubular structures ("rods") with a small diameter located in the periphery (more intensive and prominent in the atrophic type 1 muscle fibers) on light microscopic examination on muscle biopsy. (b) Activity with NADH-TR histochemical staining in the areas compatible with the intracytoplasmic dark red-blue tubular structures ("rods") with a small diameter located in the periphery (arrows). (c) Activity with COX enzyme histochemical staining in the areas compatible with the intracytoplasmic dark red-blue tubular structures ("rods") with a small diameter located in the periphery (arrows)
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F1
In the microscopic examination of the muscle biopsy, which was performed after all these results were obtained, a 'nemaline body' (rod body) was observed mostly in the sarcolemmal regions (Fig. 1a-c).
YNM_001100.3: c.1075A>C (p.I359L) (heterozygous) mutation in the ACTA1 gene whole genome sequencing performed using new-generation sequence analysis
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F2
NM was made with these findings and further molecular examination was planned. NM_001100.3: c.1075A>C (p.I359L) (heterozygous) mutation was found in skeletal muscle alpha-actin" (ACTA1) gene whole genome sequencing, which was performed with the new-generation sequence analysis method (Fig. 2).