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

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Myopathies, Nemaline  

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Tipo

  • mesh:Descriptor

Definición

  • 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)

Concepto genérico

Etiquetas alternativas

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

En otras lenguas

  • Myopathies némaline

    francés

  • Myopathies avec maturation anormale de la bande Z
  • Myopathies congénitales à bâtonnets

URI

http://data.loterre.fr/ark:/67375/JVR-H6CF2G46-D

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