Mutations in connexin can cause:: (A) Charcot Marie Tooth disease, (B) Huntington's chorea, (C) Freidrich's ataxia, (D) None of the above
Answer is A. At least 20 different genes code for connexins in humans, and mutations in these genes can lead to diseases that are highly selective in terms of the tissues involved and the type of communication between cells produced. For instance, X-linked Charcot-Marie-Tooth disease is a peripheral neuropathy associated with mutation of one paicular connexin gene. Ref: Ganong's Review of Medical Physiology 23rd edition, Chapter 2.