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Article

[Genetics and pedigree analysis of primary carnitine deficiency cardiomyopathy in 6 cases].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jul 2014

Rao Jiao, Zeng Guohong, Wang Shushui, Zhang Zhiwei, Li Yufen, Zhang Cheng

Abstract excerpt

OBJECTIVE: To investigate the mutation and background of SLC22A5 in 6 patients with primary carnitine deficiency (PCD) who only presented as cardiomyopathy. METHOD: Genomic DNA were abstracted from the blood of the patients and their parents. Using high-throughput sequencing to determine the muta...

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Identifiers

PMID: 25224063

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25224063-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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