Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene

• Main Authors: Benzhen Wang (Author), Zhanhui Du (Author), Guangsong Shan (Author), Chuanzhu Yan (Author), Victor Wei Zhang (Author), Zipu Li (Author)
• Format: Bog
• Udgivet: Frontiers Media S.A., 2021-06-01T00:00:00Z.
• Fag: article
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Sengers syndrome (OMIM #212350) is a rare autosomal recessive disorder due to mutations in acylglycerol kinase (AGK) gene. We report two cases that were diagnosed clinically and confirmed genetically. Both infants had typical clinical features characterized by hypertrophic cardiomyopathy, bilateral...