A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features

A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features

Abstract Background Primary carnitine deficiency (PCD) denotes low carnitine levels with an autosomal recessive pattern of inheritance. Cardiomyopathy is the most common cardiac symptom in patients with PCD, and early diagnosis can prevent complications. Next-generation sequencing can identify genet...

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Bibliographic Details
Main Authors: Amir Ghaffari Jolfayi, Niloofar Naderi, Serwa Ghasemi, Alireza Salmanipour, Sara Adimi, Majid Maleki, Samira Kalayinia
Format: Article
Language:English
Published: BMC 2024-01-01
Series:BMC Cardiovascular Disorders
Subjects:
Primary carnitine deficiency
Cardiomyopathy
SLC22A5
Organic cation transporter 2
Whole-exome sequencing
Online Access:https://doi.org/10.1186/s12872-023-03676-z

Internet

https://doi.org/10.1186/s12872-023-03676-z

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