Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardia.

Josephs, Katherine; Patel, Kunjan; Janson, Christopher M; Montagna, Cristina; McDonald, Thomas V

Josephs, Katherine; Patel, Kunjan; Janson, Christopher M; Montagna, Cristina; McDonald, Thomas V.

Affiliation

Josephs K; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York.
Patel K; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York.
Janson CM; Department of Pediatrics (Cardiology), Albert Einstein College of Medicine & Montefiore Medical Center, Bronx, New York.
Montagna C; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York.
McDonald TV; Department of Medicine (Cardiology), Albert Einstein College of Medicine & Montefiore Medical Center, Bronx, New York.

Mol Genet Genomic Med ; 5(6): 788-794, 2017 11.

Article in En | MEDLINE | ID: mdl-29178653

Subject(s)

Calsequestrin/genetics; Tachycardia, Ventricular/genetics; Base Sequence; Blood Platelets/metabolism; Child; Electrocardiography; Follow-Up Studies; Genotype; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Male; Pedigree; Phenotype; Polymorphism, Single Nucleotide; RNA/chemistry; RNA/isolation & purification; RNA/metabolism; RNA Splice Sites/genetics; Reverse Transcriptase Polymerase Chain Reaction; Sequence Analysis, RNA; Tachycardia, Ventricular/diagnosis

Key words

Atrial fibrillation; alternative splicing; autosomal recessive; calsequestrin-2; catecholaminergic polymorphic ventricular tachycardia

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Calsequestrin / Tachycardia, Ventricular Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2017 Type: Article

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