nemaline myopathy

Summary
Synonym
  • Nemaline body disease
  • nemaline rod myopathy
  • rod body disease
  • rod myopathy
Definition
A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.
Super Class
congenital myopathy
Disease Ontology
DOID:3191
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
60 ACTB actin beta
70 ACTC1 actin alpha cardiac muscle 1
4703 NEB nebulin
Displaying all 3 entries
Gene ID Gene Symbol Description Source
11461 Actb actin, beta
11464 Actc1 actin, alpha, cardiac muscle 1
17996 Neb nebulin
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24837 Tnnt2 troponin T2, cardiac type
81822 Actb actin, beta

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024