Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome.
Altmann, Helene M
Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. [electronic resource] - Circulation Jun 2015 - 2051-60 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1524-4539
10.1161/CIRCULATIONAHA.115.015397 doi
Adolescent
Adult
Aged
Carrier Proteins--genetics
Child
Child, Preschool
Defibrillators, Implantable
Exome
Female
Frameshift Mutation
Genes, Recessive
Heart Arrest--diagnosis
Heterozygote
Homozygote
Humans
Infant
Long QT Syndrome--diagnosis
Male
Middle Aged
Muscle Proteins--genetics
Pedigree
Phenotype
Sequence Analysis, DNA
Sympathectomy
Syncope--diagnosis
Syndrome
Treatment Outcome
Young Adult
Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. [electronic resource] - Circulation Jun 2015 - 2051-60 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1524-4539
10.1161/CIRCULATIONAHA.115.015397 doi
Adolescent
Adult
Aged
Carrier Proteins--genetics
Child
Child, Preschool
Defibrillators, Implantable
Exome
Female
Frameshift Mutation
Genes, Recessive
Heart Arrest--diagnosis
Heterozygote
Homozygote
Humans
Infant
Long QT Syndrome--diagnosis
Male
Middle Aged
Muscle Proteins--genetics
Pedigree
Phenotype
Sequence Analysis, DNA
Sympathectomy
Syncope--diagnosis
Syndrome
Treatment Outcome
Young Adult