Since its first description as Vocal cord and pharyngeal weakness with distal myopathy (VCPDM) in 1998 and subsequent identification of the causative mutation in the MATR3-Gene (p.S85C, c.254C > G), a number of patients with Matrin-3-associatied distal myopathy have been identified. This evidence concerns the gene MATR3 and distal myopathy.