Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

Keyphrases

• Clinical Phenotype 100%
• Functional Characterization 100%
• Chloride Current 100%
• ClC-1 100%
• Myotonia Congenita 100%
• Molecular Mechanism 33%
• Patch Clamp 33%
• Gain-of-function mutation 33%
• Low Dose Rate 33%
• Voltage Dependence 33%
• Molecular Defects 33%
• Myotonia 33%
• HEK293 Cells 33%
• Clinical Manifestations 33%
• Stimulation Protocol 33%
• Channel Activation 33%
• ClC Channels 33%
• Channel Expression 33%
• Compound Heterozygous mutation 33%
• Repetitive Nerve Stimulation 33%
• Compound muscle Action Potential 33%
• Acetazolamide 33%
• Association of Variables 33%

Biochemistry, Genetics and Molecular Biology

• Chloride Current 100%
• Myotonia congenita 100%
• Patch Clamp 33%
• Electric Potential 33%
• Loss of Function Mutation 33%
• Heterozygosity 33%
• Muscle Action Potential 33%
• Repetitive Nerve Stimulation 33%
• Chloride Channel 33%
• Acetazolamide 33%

Neuroscience

• Myotonia congenita 100%
• Chloride Current 100%
• In Vitro 33%
• Loss of Function Mutation 33%
• Chloride Channel 33%
• Patch Clamp 33%
• Action Potential 33%
• Acetazolamide 33%