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Article

Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.

European journal of medical genetics - 1 Oct 2014

Han Lianshu, Wang Fei, Wang Yu, Ye Jun, Qiu Wenjuan, Zhang Huiwen, Gao Xiaolan, Gong Zhuwen, Gu Xuefan

Abstract excerpt

Systemic primary carnitine deficiency (CDSP) is caused by mutations in SLC22A5 gene, which encodes organic cation transporter 2(OCTN2). CDSP leads to skeletal or cardiac myopathy and hepatic encephalopathy. The present study aimed to identify SLC22A5 gene mutations and analyze the potential relationship between genotype and clinical symptoms in 20 Chinese patients with CDSP. The complete coding region of the...

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PMID: 25132046
DOI: 10.1016/j.ejmg.2014.08.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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