An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.

Guillen Sacoto, Maria J; Chapman, Kimberly A; Heath, Deneen; Seprish, Mary Beth; Zand, Dina J

Guillen Sacoto, Maria J; Chapman, Kimberly A; Heath, Deneen; Seprish, Mary Beth; Zand, Dina J.

Afiliação

Guillen Sacoto MJ; Medical Genetics Training Program, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717 Room 1B207, Bethesda, MD 20892-3717, USA.
Chapman KA; Division of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.
Heath D; Department of Cardiology, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.
Seprish MB; Division of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.
Zand DJ; Division of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.

Mol Genet Metab Rep ; 3: 47-54, 2015 Jun.

Article em En | MEDLINE | ID: mdl-26937396

Palavras-chave

Dilated cardiomyopathy; Hearing loss; Long QT; Mitochondrial; Sensorineural hearing loss; Whole exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article