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Li, Ning; Lin, Zhao-Jing; Fan, Liang-Liang; Xu, Jun-Mei; Yu, Rong
QJM : An International Journal of Medicine, 10/2023, Volume: 116, Issue: 10Journal Article
Mutations of myotilin (MYOT) have been identified in patients with muscular dystrophy. We identified a novel mutation (NM_006790: c.849G>A/p.W283X) of MYOT in a family with muscular dystrophy and postoperative respiratory failure. Functional studies revealed that the mutation led to a truncated protein, as the molecular weight was smaller, the expression level was reduced, and the distribution of MYOT was altered.
