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nemaline myopathy

 

Definition: congenital, nonprogressive muscle weakness most evident in the proximal muscles; named after the characteristic nemaline (threadlike) rods seen in the muscle cells composed of Z-band material. There are two forms, dominant [MIM*161800] caused by mutation in the tropomyosin-3 gene (TPM3) on 1q22–q23, and recessive [MIM*256030], that are clinically indistinguishable.

Synonym(s): rod myopathy

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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