CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia

Keyphrases

• ClC-1 66%
• CLCN1 100%
• CLCN1 Gene 33%
• Dominant Effect 33%
• Dominant Inheritance 33%
• Myotonia 100%
• Myotonia Congenita 100%
• Plasma Membrane Proteins 33%
• Recessive Inheritance 33%
• Transmembrane Delivery 33%
• Xenopus Oocytes 33%

INIS

• defects 20%
• delivery 20%
• doses 20%
• levels 40%
• membrane proteins 20%
• membranes 40%
• muscles 20%
• mutants 60%
• mutations 100%
• nerves 20%
• oocytes 20%
• plasma 60%

Biochemistry, Genetics and Molecular Biology

• CLCN1 100%
• Dominant Inheritance 33%
• Myotonia congenita 100%
• Recessive Inheritance 33%