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Article

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.

European journal of human genetics : EJHG - 1 Jun 2017

Lahrouchi Najim, Lodder Elisabeth M, Mansouri Maria, Tadros Rafik, Zniber Layla, Adadi Najlae, Clur Sally-Ann B, van Spaendonck-Zwarts Karin Y, Postma Alex V, Sefiani Abdelaziz, Ratbi Ilham, Bezzina Connie R

Abstract excerpt

Pediatric cardiomyopathy is a rare but severe disease with high morbidity and mortality. The causes are poorly understood and can only be established in one-third of cases. Recent advances in genetic technologies, specifically next-generation sequencing, now allow for the detection of genetic causes of cardiomyopathy in a systematic and unbiased manner. This is particularly important given the large clinical...

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Cardiomyopathies
Carnitine
Codon, Terminator
Death, Sudden
Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Organic Cation Transport Proteins

Solute Carrier Family 22 Member 5

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Identifiers

PMID: 28295041
DOI: 10.1038/ejhg.2017.22
PMCID: PMC5477358

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Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.PMID 28295041Read ↗

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