“…To date, only 8 different DNAJB6 mutations have been identified in familial or sporadic patients with myopathy in the Caucasian and East Asian populations . These DNAJB6 mutations encompass p.Phe89Ile, p.Phe91Ile, p.Phe91Leu, p.Phe93Ile, p.Phe93Leu, p.Pro96Arg, p.Phe100Val and c.346+5G>A . The majority of the patients with these mutations have limb‐girdle muscular dystrophy type 1D (LGMD1D), characterized by progressive muscle weakness and atrophy predominantly affecting the proximal limbs, whereas a small group of them has distal‐onset myopathy, presenting with muscle weakness and atrophy initiating in the distal lower limbs and propagating to other regions of limbs.…”