According to Chauveau et al.26, 39 TTN mutations have been identified so far in four pure skeletal muscle myopathies: limb girdle muscular dystrophy type 2J (LGMD2J), late-onset autosomal dominant tibial muscular dystrophy (TMD), hereditary myopathy with early respiratory failure (HMERF), and congenital centronuclear myopathy (CNM). The gene discussed is TTN; the disease is Hereditary proximal myopathy with early respiratory failure.