A further possible association of CACNA1S mutations with congenital myopathy phenotypes was afterwards suggested in a study [18] including a cohort of 11 patients from 7 different families, with an age range from 8 to 60 years and a consistent phenotype of early-onset myopathy and mutations in the skeletal muscle α 1 subunit of DHPR, CACNA1S. The gene discussed is QDPR; the disease is congenital myopathy with cores.