Congenital myopathies are inherited muscle disorders that typically present with neonatal or childhood hypotonia, muscle weakness, delayed motor development, respiratory insufficiency, feeding difficulties, facial weakness, ophthalmoplegia, or characteristic muscle biopsy findings. Disease severity ranges from mild childhood weakness to severe neonatal presentations.

This panel includes genes associated with the major congenital myopathies, including nemaline myopathy, central core disease, centronuclear myopathy, congenital fiber-type disproportion, myosin-related myopathies, and related early-onset structural muscle disorders. Representative genes include RYR1, NEB, MTM1, DNM2, SELENON, TPM2, TPM3, KLHL40, LMOD3, MYH2, and TTN.

This panel is recommended for patients with congenital or early-onset muscle weakness in whom a structural congenital myopathy is suspected rather than muscular dystrophy, neuropathy, or neuromuscular junction disease.