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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 mutation site.Using Sanger method to confirm the mutated alleles in PCD patients and detect the corresponding sequences in...

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PMID: 25224063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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