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Keyword - Nemaline myopathy (KW-1057)

Definition

Protein which, if defective, causes nemaline myopathy, a hereditary neuromuscular disorder characterized by generally non-progressive muscle weakness of varying severity, and abnormal thread- or rod-like structures in muscle fibers on histologic examination. The age of onset varies from birth to adulthood. The main clinical manifestations include weakness (usually most severe in the face, the neck flexors, and the proximal limb muscles), hypotonia, and depressed or absent deep tendon reflexes. Nemaline myopathy is divided into several broad groups classified by onset and severity of motor and respiratory involvement.

Synonyms

  • NEM
  • NM
  • Rod body myopathy
  • Rod myopathy

Category

Disease

Graphical

Nemaline myopathyDisease
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