The heterogeneous clinical presentation of ACTA1-related nemaline myopathy (NEM3) has been initially emphasized in a cohort, which also included the first adult onset case of a male, who complained of exerting weakness at 42 years, followed by a slowly progressive muscle weakness and swallowing difficulties, while muscle biopsy showed myofibrillar disorganization and nemaline bodies. Here, ACTA1 is linked to nemaline myopathy.