COL6A1 and Bethlem myopathy: Of these six patients, one showed an intermediate phenotype, with a COL6A2, c.875G>C, and p.Gly292Ala genomic mutation; while five were affected by Bethlem myopathy with the following genomic mutations: COL6A2, c.883G>A, and p.Gly295Arg; COL6A3, c.6158G>T, and p.Gly2053Val; COL6A1, c.428+1G>A, and Tyr122-Gly143del; COL6A2, c.847G>A, and p.Gly283Arg; and COL6A2, c.802G>A, and p.Gly268Ser.