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Article

A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia.

Medicine - 1 Jun 2018

Tang Jin, Song Xueqin, Ji Guang, Wu Hongran, Sun Shuyan, Lu Shan, Li Yuan, Zhang Chi, Zhang Huiqing

Abstract excerpt

This study was aimed to detect a new mutation responsible for X-linked dilated cardiomyopathy with hyper-CKemia.We studied a proband who presented with cardiac symptoms with hyper-CKemia, but no clinical skeletal involvement in physical examination, laboratory tests, electromyography, echocardiography, and magnetic resonance imaging (MRI) of cardiac muscles. Muscle biopsy for histopathology and...

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Share to Cardiomyopathy, Dilated
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29901616
DOI: 10.1097/MD.0000000000011074
PMCID: PMC6024070

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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