A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic...
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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 genetic variants attributable to PCD efficiently.
We aimed to detect the...
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Full title
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
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TN_cdi_doaj_primary_oai_doaj_org_article_8f8f56202bda48dea0593a5490d12308
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8f8f56202bda48dea0593a5490d12308
Other Identifiers
ISSN
1471-2261
E-ISSN
1471-2261
DOI
10.1186/s12872-023-03676-z
