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Article

Effect of an R69C Mutation in the Myelin Protein Zero Gene on Myelination and Ion Channel Subtypes

1 Dec 2006

Abstract excerpt

BACKGROUND: Most mutations in the myelin protein zero gene (MPZ) typically cause a severe demyelinating/dysmyelinating neuropathy that begins in infancy or an adult-onset axonal neuropathy. Axonal degeneration in the late-onset H10P mutation may be caused by the disruption of axoglial interaction. OBJECTIVE: To evaluate sural nerve biopsy samples from a patient with early-onset Charcot-Marie-Tooth disease type 1B...

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PMID: 17172621
DOI: 10.1001/archneur.63.12.1787

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