nemaline myopathy (rod myopathy)

Pathology: - abnormal thread- or rod-like structures in muscle fibers Genetics: - associated with defects in tropomyosin-3 gene (type 1) - associated with defects in TPM3 (type 1) (autosomal dominant) - associated with defects in nebulin gene (type 2) (autosomal recessive) - associated with defects in ACTA1 (type 3) - associated with defects in TPM2 (type 4) - associated with defects in TNNT1 (type 5) - associated with defects in CFL2 (type 7) - associated with defects in KLHL40 (type 8) Clinical manifestations: - muscle weakness of varying severity & onset

Specific

nemaline myopathy type 5 (Amish nemaline myopathy) nemaline myopathy type 8

General

genetic disease of muscle (inherited myopathy) developmental disorder

Database Correlations

OMIM correlations MORBIDMAP correlations

References

OMIM :accession 102610, 256030, 191030