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A novel in-frame deletion in MYOT causes an early adult onset distal myopathy. | LitMetric

AI Article Synopsis

  • Missense mutations in the MYOT gene lead to various myopathic conditions such as proximal limb-girdle muscular dystrophy and distal myopathy, particularly affecting muscle structure and function.
  • A family carrying a unique deletion in the MYOT gene experienced early-onset distal muscle weakness, diagnosed as myofibrillar myopathy (MFM).
  • Experimental studies using zebrafish embryos showed that this deletion disrupts muscle structure and function, highlighting the crucial role of specific amino acids in maintaining the integrity of myotilin within muscle fibers.

Article Abstract

Missense mutations in MYOT encoding the sarcomeric Z-disk protein myotilin cause three main myopathic phenotypes including proximal limb-girdle muscular dystrophy, spheroid body myopathy, and late-onset distal myopathy. We describe a family carrying a heterozygous MYOT deletion (Tyr4_His9del) that clinically was characterized by an early-adult onset distal muscle weakness and pathologically by a myofibrillar myopathy (MFM). Molecular modeling of the full-length myotilin protein revealed that the 4-YERPKH-9 amino acids are involved in local interactions within the N-terminal portion of myotilin. Injection of in vitro synthetized mutated human MYOT RNA or of plasmid carrying its cDNA sequence in zebrafish embryos led to muscle defects characterized by sarcomeric disorganization of muscle fibers and widening of the I-band, and severe motor impairments. We identify MYOT novel Tyr4_His9 deletion as the cause of an early-onset MFM with a distal myopathy phenotype and provide data supporting the importance of the amino acid sequence for the structural role of myotilin in the sarcomeric organization of myofibers.

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Source
http://dx.doi.org/10.1111/cge.14413DOI Listing

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