ArticleFrontiers in genetics2022
A Rare Phenotype of Uncommon Charcot-Marie-Tooth Genotypes Complicated With Inflammation Evaluated by Genetics and Magnetic Resonance Neurography.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 1 citations in OpenAlex.
- A Case Report of a Novel Myelin Protein Zero (Case reports in genetics · 2026Article
- Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.International journal of molecular sciences · 2024Article
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Authors and funding
5 authors at 3 institutions in 1 country.
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Abstract
The pathogenesis of Charcot-Marie-Tooth (CMT) disease, an inherited peripheral neuropathy, is associated with more than 60 nuclear genes. We reported a rare phenotype of the uncommon CMT genotype complicated with neuroinflammation, that is, an MPZ mutation, NC_000001.11 (NM_000530.6): c.308G > C detected by next-generation sequencing. Moreover, we present a case of the CMT type 1B, with atypical presentation as two patterns of hypertrophy in the brachial and lumbosacral plexus, as well as enhancement in the cauda equina and nerve roots on multimodal magnetic resonance neurography (MRN). MRN assessment facilitated the identification of coexisting neuroinflammation and provided more evidence, especially for patients with atypical symptoms in hereditary sensory and motor neuropathy, who could benefit from immunotherapy.
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