2023
DOI: 10.7759/cureus.39884
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Clinical Features of a Newly Described Mutation of Myelin Protein Zero in a Family

Abstract: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy. Duplication of the peripheral myelin protein-22 ( PMP22 ) gene is the most frequent genetic abnormality in CMT disease. Although rare compared to PMP22 gene mutations, many different myelin protein zero ( MPZ ) gene mutations have been described in patients with CMT disease. MPZ gene mutations are kn… Show more

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