CACNA1S and Bethlem myopathy: In these cases apart from clinical phenotype of LGMD, additional features included the following: considerable distal weakness with early onset typical for MYH7-related myopathies (patient 18, CAPN3 + MYH7), early disease onset not typical for LGMD2B and possible autosomal dominant inheritance (patient 407, DYSF + MYH7), and almost exclusively type 1 fibers in biopsy unexpected for LGMD or Bethlem myopathy, whereas encountered in CACNA1S-related myopathies (patient 901, COL6A3 + CACNA1S).