Charcot Marie Tooth Disease type 2 caused by the R191Q Mutation in the Valosin-Containing Protein gene

Mutations in the Valosin-containing protein (VCP) gene cause a rare condition designated VCP-MSP (valosin-containing protein causing multisystem proteinopathy). The common phenotypes associated with this condition are inclusion body myopathy, Paget's disease of bone and frontotemporal dementia. We present a patient of Asian Indian descent with a rarely reported phenotype of neuropathy, Charcot-Marie-Tooth disease type 2 caused by the R191Q mutation. Our report expands the phenotype associated with this mutation and confirms the worldwide distribution of VCP-MSP.