The most characteristic clinical sign of BHP disease is a skeletal muscle weakness that is frequently episodic in nature, either generalized, or sometimes localized to the neck and thoracic muscles.

In connection with the BHP disease , a mutation ( c.2899C > T ) in WNK4 gene was found producing a premature stop codon , leading to a protein from the family of serine / threonine kinase truncated by an important domain and a phosphorylation site ( Gandolfi et al .

Linke ’ s team identified two regions within the flexible segment of the titin molecule which are phosphorylated by the enzyme, namely the PEVK and N2Bus region.

These sites contain several amino acids of the type serine and threonine , which have changed little in the course of evolution .

The work of the CaM kinase II determines cell stiffness

Biotechnology

The serin / threonine kinase c-raf has important functions concerning regulation of cell proliferation and apoptosis and in many tumours , above all in epithelial tumours , it is overactivated .

This observation has given rise to numerous attempts to use inhibition of c-raf therapeutically; of these, however, hitherto none has been applied to the expression of the protein.