myofibrillar myopathy type 5

(redirected from filamin C-related myofibrillar myopathy)

myofibrillar myopathy type 5

A neuromuscular disorder (OMIM:609524) of usually adult onset, which is characterised by focal myofibrillar destruction, pathological cytoplasmic protein aggregates, and features of a limb-girdle myopathy.

Molecular pathology
Defects in FLNC, which encodes filamin C, cause myofibrillar myopathy type 5.