Subject Areas on Research
- Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.
- Functional repair of a mutant chloride channel using a trans-splicing ribozyme.
- Myotonia congenita with painful muscle contractions.
- Specificity of biochemical and biophysical tests in Duchenne and myotonic muscular dystrophy, carrier states, and congenital myotonia.
- Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.
- Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.
- Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.