Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

BACKGROUND: Mutations in the gene encoding periaxin (PRX) are known to cause autosomal recessive Dejerine-Sottas neuropathy (DSN) or Charcot-Marie-Tooth disease type 4F. However, there have been no reports describing Korean patients with these mutations. CASE REPORT: We examined a Korean DSN patient...

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Detalles Bibliográficos
Autores principales: Choi, Ye Ji, Hyun, Young Se, Nam, Soo Hyun, Koo, Heasoo, Hong, Young Bin, Chung, Ki Wha, Choi, Byung-Ok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Neurological Association 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302186/
https://www.ncbi.nlm.nih.gov/pubmed/25628743
http://dx.doi.org/10.3988/jcn.2015.11.1.92

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302186/
https://www.ncbi.nlm.nih.gov/pubmed/25628743
http://dx.doi.org/10.3988/jcn.2015.11.1.92

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