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  • Updated 11.07.2020
  • Released 12.16.1994
  • Expires For CME 11.07.2023

Nemaline myopathy



The full complement of known mutations that cause nemaline myopathy is presented. This review also highlights literature that discusses the cardiac manifestations of this disease.

Key points

• Nemaline myopathy is probably the most common of the congenital myopathies.

• Nemaline myopathy can present at any age with proximal muscle weakness, respiratory insufficiency, or bulbar dysfunction.

• Childhood forms of nemaline myopathy are caused by mutations in numerous genes encoding muscle thin filaments.

• Adult forms of nemaline myopathy can be more rapidly progressive and may be caused by immune dysregulation.

Historical note and terminology

Nemaline myopathy was first described in 1963 by investigators from the United States and Canada (20; 122). Nemaline myopathy is defined by a particular ultrastructural change on muscle biopsy: the finding of thread-shaped structures in muscle fibers, which are known as nemaline bodies, or rods (from the Greek nema, meaning thread).

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