DNAJB6 and myopathy: Whilst DNAJB6 patients also show aggregation of KRT18 [11], most patients have dominant missense mutations and the recently discovered recessive case of DNAJB6 myopathy showed loss of the nuclear DNAJB6 isoform but no significant change to levels of the cytoplasmic DNAJB6 isoform [10], therefore patients with a complete loss of DNAJB6 have not been identified, potentially due to embryonic lethality.