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Figure 2 | Diagnostic Pathology

Figure 2

From: Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature

Figure 2

Summary of investigation. (A) The quadriceps femoris biopsy showed multiple red nemaline rods in sarcoplasm. mGt, X1000. (B) Electron micrograph revealed many nemaline rods (arrow) of uneven size. X30000. (C) Dilated lymphatic vessels (star) were noted in the pleura and interlobular septum. H&E, X100. (D) Low power demonstrated markedly-dilated lymphatic vessels (star) in peribronchovascular areas. Some were more than 5 times of the adjacent alveolar diameter. H&E, X40. (E) Normal sequence of the ACTA 1 gene (control). (F) A heterozygous substitution of G to C at nucleotide position 1127 (c.1127G > C) in exon 7 of ACTA1 gene was evident.

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