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

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

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...

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Bibliographic Details
Main Authors: Benzhen Wang, Zhanhui Du, Guangsong Shan, Chuanzhu Yan, Victor Wei Zhang, Zipu Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Pediatrics
Subjects:
Sengers syndrome
acylglycerol kinase
mutation
genotype
cardiomyopathy
hypertrophic
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.639687/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.639687/full

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