ITPR3 Mutations Can Cause Intermediate Form of CMT, Study Says
Mutations in the ITPR3 gene appear to cause an intermediate form of Charcot-Marie-Tooth disease (CMT) that shows axonal degeneration and demyelination, a recent study suggests. While IP3R3 — the protein coded by ITPR3 — is thought to be needed to maintain the protective myelin sheath, defects in…