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A Novel Duplication Mutation in the Myelin Protein Zero Gene Causing Mild, Nonprogressive Demyelinating Neuropathy

Mutations in the myelin protein zero (MPZ) gene can cause a variety of clinical and electrophysiological forms of genetic neuropathies including Charcot-Marie-Tooth (CMT) type 1B disease which is characterized by demyelinating features. We present a father and daughter with neuropathy carrying a nov...

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Publicat a:Case Rep Neurol
Autors principals: Oberoi, Kinsi, Grewal, Alam S., Peddareddygari, Leema Reddy
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7443678/
https://ncbi.nlm.nih.gov/pubmed/32884544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000509266
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