Proof of a non-functional muscle chloride channel in recessive myotonia congenita (becker) by detection of a 4 base pair deletion

Keyphrases

• Myotonia 100%
• Chloride Channel 100%
• Myotonia Congenita 100%
• Transmembrane Domain 50%
• Truncation 25%
• Point mutation 25%
• Channel Protein 25%
• Missense mutation 25%
• Muscle Fiber 25%
• Negative Charge 25%
• Stop Codon 25%
• Early Stopping 25%
• Aspartic Acid 25%
• Gene Coding 25%
• Single Amino Acid 25%
• Reading Frame 25%
• Fibre Function 25%
• Coding Potential 25%
• Novel Point mutations 25%

Biochemistry, Genetics and Molecular Biology

• Point Mutation 100%
• Myotonia congenita 100%
• Chloride Channel 100%
• Stop Codon 50%
• Amino Acids 50%
• Channel Protein 50%
• Missense Mutation 50%
• Reading Frame 50%
• Dominant Inheritance 50%
• Aspartic Acid 50%

Immunology and Microbiology

• Chloride Channel 100%
• Point Mutation 100%
• Missense Mutation 50%
• Dominant Inheritance 50%
• Reading Frame 50%
• Stop Codon 50%