Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation

European Journal of Medical Genetics

Volumn 57, Issue 7, 2014, Pages 349-

  Finsterer, Josef ^a   Zarrouk Mahjoub, Sinda ^b  

^a KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

^b Laboratory of Biochemistry   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

GENE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LETTER; MYBPC3 GENE; PATHOGENESIS; VENTRICULAR NONCOMPACTION; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MALE; MOLECULAR DIAGNOSIS; MUTATION; PROCEDURES;

CARRIER PROTEIN;

CARRIER PROTEINS; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION;

EID: 84902169769     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.04.007     Document Type: Letter

References (5)

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2. Prada C.E., Jefferies J.L., Grenier M.A., Huth C.M., Page K.I., Spicer R.L., et al. Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy. Pediatrics 2012, 130:e456-e460.
3. Schaefer E., Helms P., Marcellin L., Desprez P., Billaud P., Chanavat V., et al. Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene. Eur J Med Genet 2014, 57:129-132.
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5. Zarrouk Mahjoub S., Mehri S., Ourda F., Boussaada R., Mechmeche R., Arab S.B., et al. Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction. Cardiology 2011, 118:153-158.