A team of researchers at Baylor College of Medicine reveals new insights into what can be causing life-threatening cardiac-related events in myotonic dystrophy type 1(DM1). Published in the Journal of ...

In this study, we describe the overlapping phenotypes of short QT interval with Brugada-like ECG in a Chinese man. Furthermore, we identify a heterozygous missense mutation in the patient′s SCN5A ...

Approximately 2% of patients with irritable bowel syndrome (IBS) have a mutation of the SCN5A gene that disrupts sodium channel function, according to a genotype analysis published online March 10 in ...

People with Myotonic Dystrophy Type 1 (DM1), the most common adult-onset form of muscular dystrophy, progressively lose muscle mass and strength in their lower legs, hands, neck and face. The effects ...

Since the identification of the first SCN5A mutation associated with long QT syndrome in 1995, several mutations in this gene for the α subunit of the cardiac sodium channel have been identified in a ...

In genetic mapping of a large family with several members affected by a type of heart failure called dilated cardiomyopathy (DCM), the Mayo Clinic team found a defect in a gene on chromosome 3 called ...

This issue has been the subject of much debate and one that is in a rapid course of evolution. Like the long-QT and short-QT syndromes, Brugada syndrome is traditionally thought of as a primary ...

Is irritable bowel syndrome (IBS) caused by genetics, diet, past trauma, anxiety? All are thought to play a role, but now, for the first time, researchers have reported a defined genetic defect that ...

Brugada syndrome (BrS) is a recently identified disorder. Brugada syndrome is a rare but serious heart condition that affects the way electrical signals pass through the heart. It can cause the heart ...