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

Keyphrases

• Biochemical Assay 33%
• ClC-1 66%
• CLCN1 100%
• CLCN1 Gene 33%
• Co-expression 66%
• Dominant Effect 33%
• Dominant Inheritance 33%
• Dose Effect 33%
• High-level Expression 33%
• Inheritance Pattern 100%
• Low Expression 33%
• Missense mutation 33%
• Myotonia 100%
• Myotonia Congenita 100%
• Nerve 33%
• Novel Mechanism 100%
• Plasma Membrane 66%
• Plasma Membrane Proteins 33%
• Protein Level 33%
• Recessive Inheritance 33%
• Transmembrane Delivery 33%
• Xenopus Oocytes 33%

Biochemistry, Genetics and Molecular Biology

• Cell Membrane 100%
• CLCN1 100%
• Dominant Inheritance 33%
• Inheritance 33%
• Membrane Protein 33%
• Missense Mutation 33%
• Muscle Innervation 33%
• Myotonia congenita 100%
• Recessive Inheritance 33%
• Wild Type 66%
• Xenopus 33%