Ontology highlight
ABSTRACT:
SUBMITTER: Sato A
PROVIDER: S-EPMC2787373 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
Sato Akinori A Arimura Takuro T Makita Naomasa N Ishikawa Taisuke T Aizawa Yoshiyasu Y Ushinohama Hiroya H Aizawa Yoshifusa Y Kimura Akinori A
The Journal of biological chemistry 20091013 50
Long QT syndrome (LQTS) is a hereditary arrhythmia caused by mutations in genes for cardiac ion channels, including a potassium channel, KvLQT1. Inheritance of LQTS is usually autosomal-dominant, but autosomal-recessive inheritance can be observed in patients with LQTS accompanied by hearing loss. In this study, we investigated the functional alterations caused by KCNQ1 mutations, a deletion (delV595) and a frameshift (P631fs/19), which were identified in compound heterozygous state in two patie ...[more]