In COL6A1, the p.Gly284Arg (c.850G>A) missense change was present in four UCDM patients, the p.Gly293Arg (c.877G>A) in two INTM patients and in one UCDM patient, and the intronic variant c.930+189C>T (causing the insertion of an aberrant exon) in three UCMD patients. This evidence concerns the gene COL6A1 and Ullrich congenital muscular dystrophy.