nemaline myopathy type 1
nemaline myopathy type 1An autosomal dominant form (OMIM:609284) of nemaline myopathy, a family of disorders characterised by muscle weakness of varying severity and onset, and abnormal thread- or rod-like structures in muscle fibres on histologic examination.
NEM1 is of moderate severity, with an onset between birth and early adolescence. Weakness is diffuse and symmetrical, with slow progression and a need for a wheelchair in adulthood.
Caused by defects of TPM3, which encodes an actin-binding protein that plays a role in the contractile system of striated and smooth muscle.