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

More general terms

• genetic disease of muscle (inherited myopathy)
• developmental disorder

More specific terms

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

Database

• OMIM: https://mirror.omim.org/entry/161800
• OMIM: https://mirror.omim.org/entry/102610
• OMIM: https://mirror.omim.org/entry/256030
• OMIM: https://mirror.omim.org/entry/191030
• OMIM: https://mirror.omim.org/entry/605355
• OMIM: https://mirror.omim.org/entry/610687
• OMIM: https://mirror.omim.org/entry/609284
• OMIM: https://mirror.omim.org/entry/609285
• OMIM: https://mirror.omim.org/entry/615348