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Congenital Nemaline Myopathy Type 2

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This form of congenital myopathy was first described in 1963 by Shy in a floppy girl with upper and lower limb weakness. The hallmark of the disease is the muscle histopathological observation of nemaline bodies (from the Greek name “nema” which means rod), which accumulate at the periphery of most type 1 muscle fibers. On electron microscopy, these rods are formed by protein crystalline structures that derive from several constituents of sarcomeric Z-line, such as alpha-actinin, tropomyosin, actin, and nebulin. This pathological variability is the basis of a wide genetic heterogeneity (Tables 31.1 and 31.2). The most frequent genetic form of nemaline myopathy is due to mutations in the NEB gene, encoding nebulin, a giant protein of the Z-line. Most patients were characterized by similar clinical features, such as high-arched palate, long fingers, elongated myopathic face, chest deformity, dysphagia, respiratory insufficiency, and bulbar muscle weakness. Hypotonia, which is present at birth, is associated with a long myopathic phase, with marked involvement of axial and respiratory muscles.

Although some patients did not reach adult age, we present here a case who had several episodes of respiratory insufficiency but reached age 50 with very thin body bulk and, at difference with other cases, presented extraocular muscle involvement.


  • Nemaline bodies
  • Rods
  • Nebulin

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  • DOI: 10.1007/978-3-319-07500-6_31
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Fig. 31.1


  1. Shy GM, Engel WK, Somers GE, et al. Nemaline myopathy. A new congenital myopathy. Brain. 1963;86:793–810.

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  2. Micaglio GF, Pierobon-Bormioli S, Armani M, Angelini C, Scarpa C. Congenital myopathy with ocular involvement. Proceedings of the European Congress on Muscle and Motility, Salzburg,1980.

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  3. Kiiski K, Laari L, Lehtokari VL, et al. Targeted array comparative genomic hybridization – a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes. Neuromuscul Disord. 2013;23:56–65.

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Angelini, C. (2014). Congenital Nemaline Myopathy Type 2. In: Genetic Neuromuscular Disorders. Springer, Cham.

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  • Print ISBN: 978-3-319-07499-3

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