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. 2020 Nov 30;25:100682. doi: 10.1016/j.ymgmr.2020.100682

Fig. 3.

Fig. 3

Photos of the patient #15 showing muscle atrophy in the shoulder girdle and the lower half of the facial musculature. WES testing identified the p.Thr57fs*2 (c.170delC) change in the MYOT gene, suggesting the diagnosis of myotilinopathy.