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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

Fig. 3

Muscle biopsy results. Myopathic changes: increased fiber-size variation, internal nuclei, endomysial fibrosis (a). Subsarcolemmal storage material staining bright on HE (a) and with modified Gomori (b), dark on NADH (c). The storage material beneath the sarcolemma is clearly visible on the electron microscopic (EM) image (d). An atrophic fiber is almost completely filled with granular storage material (e). Structural alterations of fibers: dysorganized sarcomers and abnormal electrondense bodies (f), „core-like” appearance of fibers with NADH (c) and core structures on EM (g). Original magnifications: A: 80×, B: 160×, C: 80×, D: 10.000×, E: 7.500×, F: 20.000×, G: 15.000×

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BMC Medical Genetics

ISSN: 1471-2350

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