A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

Background: Linkage, haplotype and sequencing analysis in a large Spanish Gypsy kindred with multiple members affected by autosomal recessive peripheral neuropathy led to the identification of a novel mutation, p.Arg1109X, in the CMT4C gene. The screening of further unrelated patients, and of a pane...

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Detalhes bibliográficos
Main Authors: Gooding, R, Colomer, J, King, R, Angelicheva, D, Marns, L, Parman, Y, Chandler, D, Bertranpetit, J, Kalaydjieva, L
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2005
Assuntos:
Electronic Letter
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735969/
https://ncbi.nlm.nih.gov/pubmed/16326826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.034132
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