MYOT

Myotilin

Autosomal dominant inheritance

MFM 3, also known as spheroid body myopathy, is related to congenital myopathy 1a and nonaka myopathy, and has symptoms including waddling gait. An important gene associated with MFM 3 is MYOT (Myotilin), and among its related pathways/super pathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle and heart, and related phenotypes are pelvic girdle muscle weakness and peripheral neuropathy Affected individuals usually present with gait difficulties in their forties, followed by slow progression with eventual involvement of the hands and proximal muscles of the lower limbs. Rare patients may develop cardiomyopathy. Skeletal muscle biopsy shows myopathic changes with myofibrillar changes.