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Myopathies, Nemaline

A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)

Year introduced: 2000(1994)

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Tree Number(s): C05.651.575.290, C10.668.491.550.290

MeSH Unique ID: D017696

Entry Terms:

  • Myopathy, Rod
  • Myopathy, Rod-Body
  • Myopathy, Rod Body
  • Nemaline Body Disease
  • Nemaline Myopathies
  • Nemaline Rod Disease
  • Rod Body Disease
  • Rod Myopathy
  • Myopathies, Rod
  • Rod Myopathies
  • Rod-Body Myopathy
  • Myopathies, Rod-Body
  • Rod Body Myopathy
  • Rod-Body Myopathies
  • Myopathy, Nemaline
  • Nemaline Myopathy
  • Nemaline Myopathy, Autosomal Dominant
  • Autosomal Dominant Nemaline Myopathy
  • Nemaline Myopathy, Childhood Onset
  • Childhood Onset Nemaline Myopathy
  • Nemaline Myopathy, Late Onset
  • Late Onset Nemaline Myopathy
  • Adult Onset Nemaline Myopathy
  • Nemaline Myopathy, Adult Onset
  • Nemaline Myopathy, Autosomal Recessive
  • Autosomal Recessive Nemaline Myopathy

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