Fig. 1. The results of the cardiac and genetic testing in the patient.

a Echocardiography of the patient at 1 year of age. b NAA10 mutations were identified in the patient and his mother by the Sanger method. Red letters indicate deleted nucleotides. c The genotype of the NAA10 mutation in male patients of the present case and literature. The bold face indicates hypertrophic myopathy, and the dotted line shows microphthalmia or anophthalmia.