COL12A1 and myopathy: Here we have identified four novel, dominantly acting pathogenic variants in COL12A1 in four unrelated families who clinically manifest a consistent phenotype of early‐onset hypotonia, wide‐spread joint hyperlaxity, and mild myopathy in childhood, with reported clinical improvement of muscle strength over time and recurrence of distal‐predominant weakness in adulthood, consistent with the recently established designation of myopathic EDS.