These mutations once more affect the G/F domain of DNAJB6 with missense changes and a splice site mutation; and the phenotypes include childhood onset and distal involvement of muscles, or childhood-onset LGMD1D with loss of ambulation in early adulthood and respiratory involvement. This evidence concerns the gene DNAJB6 and autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6).