A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review

A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review

IntroductionMalonyl coenzyme A decarboxylase deficiency is caused by an abnormality in the MLYCD gene. The clinical manifestations of the disease involve multisystem and multiorgan.MethodsWe collected and analyzed a patient's clinical characteristics, genetic chain of evidence and RNA-seq. We u...

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Bibliographic Details
Main Authors:	Cong Zhao, Hua Peng, Nanchuan Jiang, Yalan Liu, Yan Chen, Jie Liu, Qing Guo, Zubo Wu, Lin Wang
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-04-01
Series:	Frontiers in Pediatrics
Subjects:	MCD MLYCD malonyl coenzyme A decarboxylase deficiency developmental retardation improvement of cardiomyopathy
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2023.1133134/full

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