Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene

European Journal of Medical Genetics

Volumn 57, Issue 4, 2014, Pages 129-132

  Schaefer, Elise ^a   Helms, Pauline ^a   Marcellin, Luc ^a   Desprez, Philippe ^a   Billaud, Philippe ^a   Chanavat, Valérie ^b   Rousson, Robert ^b   Millat, Gilles ^b  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b HOSPICES CIVILS DE LYON   (France)

Author keywords

Cardiomyopathy; Left ventricular noncompaction; Molecular diagnosis; MYBPC3; NGS

Indexed keywords

LYSINE; PROLINE; CARRIER PROTEIN; MYOSIN-BINDING PROTEIN C;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; MOLECULAR DIAGNOSIS; MYBPC3 GENE; NEWBORN MORBIDITY; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; RARE DISEASE; VENTRICULAR NONCOMPACTION; X CHROMOSOMAL INHERITANCE; FAMILY HEALTH; FATALITY; GENETICS; HIGH THROUGHPUT SEQUENCING; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MALE; MUTATION; PEDIGREE; PROCEDURES;

BASE SEQUENCE; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FATAL OUTCOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; PEDIGREE;

EID: 84898484342     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.02.015     Document Type: Article

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