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Case Reports
. 2023 Sep;68(3):E34-E36.
doi: 10.1002/mus.27931. Epub 2023 Jul 17.

Myelin protein zero-related autosomal dominant peripheral neuropathy presenting as hereditary neuropathy with liability to pressure palsies

Nicholas F Halliwell  1 , Kishore R Kumar  2   3   4 , Karl Ng  1   3   4
Affiliations
Case Reports

Myelin protein zero-related autosomal dominant peripheral neuropathy presenting as hereditary neuropathy with liability to pressure palsies

Nicholas F Halliwell et al. Muscle Nerve. 2023 Sep.
No abstract available

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References

REFERENCES

    1. Dubourg O, Mouton P, Brice A. Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. Neuromuscul Disord. 2000;10:206-208.
    1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the association for molecular pathology. Genet Med. 2015;17:405-424.
    1. DiVencenzo C, Elzinga C, Medieiros A, et al. The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Mol Genet Genomic Med. 2014;2:522-529.
    1. Callegari I, Gemelli C, Geroldi A, et al. Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late onset phenotype. J Neurol. 2019;266:2629-2645.
    1. Magot A, Latour P, Mussini JM, Mourtada R, Guiheneuc P, Pereon Y. A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression. Muscle Nerve. 2008;38:1055-1059.

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