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disease > genetic disease > hereditary disease > nemaline myopathy
disease > congenital disease > nemaline myopathy
disease > striated muscle disease > myopathy > nemaline myopathy

Preferred term

nemaline myopathy  

Definition(s)

  • Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. (Wikipedia)

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http://data.loterre.fr/ark:/67375/VH8-QTVB01PR-K

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RDF/XML TURTLE JSON-LD Last modified 5/14/20