FIGURE

FIGURE 1

ID

ZDB-FIG-230228-334

Publication

Zhang et al., 2023 - A novel loss-of-function mutation in NRAP is associated with left ventricular non-compaction cardiomyopathy

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FIGURE 1

Clinical and genetic findings. (A) Pedigree: the proband was indicated by an arrow. The presence or absence of the nebulin-related-anchoring protein (NRAP) variant is indicated by a ± symbol. (B) Identification of a homozygous mutation NRAP frameshift mutation c.259delC in the proband inherited from his father and mother. (C) Echocardiogram showed an enlarged left atrium and ventricle of the heart, prominent trabecular meshwork, and deep intertrabecular recesses. Chest X-ray of the proband showed an enlarged left ventricular (LV) cavity. (D) The ECG revealed sinus tachycardia, ventricular pre-excitation, and T-wave changes in some leads.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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