FIGURE

Fig. 1

ID

ZDB-FIG-240206-69

Publication

Guglielmi et al., 2023 - A novel in-frame deletion in MYOT causes an early adult onset distal myopathy

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Fig. 1

(A) Pedigree of the family. Arrow indicates the proband. Solid black symbols denote affected family member. (B) Sanger. UCSC graphic view of the N-terminal region of MYOT (upper panel). Electropherogram showing the heterozygous Tyr4_His9del in-frame deletion in exon 2 of MYOT (Lower panel). (C) Model of the human myotilin. The atom indexes are colored from red to blue depending on their sequence position. In green the p.Tyr4_His9del residues. The zoomed region illustrates the interaction between the residues involved in the deletion. The red circle shows the salt bridge formed by Arg6 and Glu5. [Colour figure can be viewed at wileyonlinelibrary.com]

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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