Clinical Features of a Newly Described Mutation of Myelin Protein Zero in a Family

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 ha...

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Detalles Bibliográficos
Autores principales: Iyer, Vasudeva G, Shields, Lisa B, Zhang, Yi Ping, Shields, Christopher B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10315180/
https://www.ncbi.nlm.nih.gov/pubmed/37404437
http://dx.doi.org/10.7759/cureus.39884

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10315180/
https://www.ncbi.nlm.nih.gov/pubmed/37404437
http://dx.doi.org/10.7759/cureus.39884

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