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Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Myopathies, Structural, Congenital > Myopathies, Nemaline
Musculoskeletal Diseases > Muscular Diseases > Myopathies, Structural, Congenital > Myopathies, Nemaline

Preferred term

Myopathies, Nemaline  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Myopathies, Rod
  • Myopathies, Rod-Body
  • Myopathy, Nemaline
  • Myopathy, Rod
  • Myopathy, Rod Body
  • Myopathy, Rod-Body
  • Nemaline Body Disease
  • Nemaline Myopathies
  • Nemaline Myopathy
  • Nemaline Rod Disease
  • Rod Body Disease
  • Rod-Body Myopathies
  • Rod Body Myopathy
  • Rod-Body Myopathy
  • Rod Myopathies
  • Rod Myopathy

Scope note

  • 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)

History note

  • 2000(1994)

In other languages

URI

http://www.yso.fi/onto/mesh/D017696

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