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Fig. 1 | Italian Journal of Pediatrics

Fig. 1

From: Congenital myopathies: clinical phenotypes and new diagnostic tools

Fig. 1

Pathological features in skeletal muscle biopsy observed in congenital myopathies. a Nemaline rods. Gomori trichrome stain showing clusters of purple staining rods at the periphery of most fibers and some internal within fibers. b Cores. Cytochrome c oxidase stain demonstrating numerous cores of varying size, centrally or peripherally. c Central nuclei. Quadriceps biopsy from a boy presenting X-linked myotubular myopathy. Hematoxylin–eosin stain (HE) showed large central nuclei in several fibers. d Central nuclei. Quadriceps biopsy from a 5-year-old patient with centronuclear myopathy due to a mutation in DNM2. HE demonstrated centrally placed nuclei in the majority of fibers, variation in fiber size and increased connective tissue. e Multi-minicores. NADH-TR stain showing areas in both fiber types of varying size and number devoid of oxidative enzyme stain. f Congenital fiber type disproportion. ATPase pre-incubated at pH 9,6 stain showing the small size of the light-staining type 1 fibers and type 1 fiber predominance

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