Charcot Marie Tooth Disease type 2 caused by the R191Q Mutation in the Valosin-Containing Protein gene
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Abstract
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.
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How to Cite
GREWAL, Raji; REDDY PEDDAREDDYGAARI, Leema; GREWAL, Kabir.
Charcot Marie Tooth Disease type 2 caused by the R191Q Mutation in the Valosin-Containing Protein gene.
Medical Research Archives, [S.l.], v. 14, n. 2, feb. 2026.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/7293>. Date accessed: 02 mar. 2026.
Keywords
Valosin-containing protein (VCP) gene, inclusion body myopathy, Paget's disease of bone, frontotemporal dementia, Charcot-Marie-Tooth disease type 2.
Section
Case Reports
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