Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review.

Xu, Fang; Wu, Yangyang; Huang, Jiyi; Zhou, Yunguo; Xu, Fei; Duan, Junkai; Li, Hong

Xu, Fang; Wu, Yangyang; Huang, Jiyi; Zhou, Yunguo; Xu, Fei; Duan, Junkai; Li, Hong.

Afiliación

Xu F; Cardiology Treatment Center, Jiangxi Provincial Children's Hospital, Nanchang, China.
Wu Y; JXHC Key Laboratory of Children's Cardiovascular Diseases, Jiangxi Provincial Children's Hospital, Nanchang, China.
Huang J; Cardiology Treatment Center, Jiangxi Provincial Children's Hospital, Nanchang, China.
Zhou Y; Pediatric Medical Department, Nanchang University, Nanchang, China.
Xu F; JXHC Key Laboratory of Children's Cardiovascular Diseases, Jiangxi Provincial Children's Hospital, Nanchang, China.
Duan J; Cardiology Treatment Center, Jiangxi Provincial Children's Hospital, Nanchang, China.
Li H; JXHC Key Laboratory of Children's Cardiovascular Diseases, Jiangxi Provincial Children's Hospital, Nanchang, China.

Front Med (Lausanne) ; 10: 1160879, 2023.

Article en En | MEDLINE | ID: mdl-37206471

Palabras clave

MLYCD; cardiomyopathy; malonyl coenzyme A decarboxylase deficiency; metabolic disease; novel mutation

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Front Med (Lausanne) Año: 2023 Tipo del documento: Article País de afiliación: China

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