Variant: rs104894708 

    present in Gene: PRX
    present in Chromosome: 19
    Position on Chromosome: 40395144
    Alleles of this Variant: G/A

rs104894708 in PRX gene and Charcot-Marie-Tooth disease type 4 PMID 15469949 2004 Clinicopathological and genetic study of early-onset demyelinating neuropathy.

PMID 15197604 2004 Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

rs104894708 in PRX gene and Dejerine-Sottas Disease (disorder) PMID 11157804 2001 A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

PMID 26059842 2016 Through the use of whole-exome sequencing we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present.

PMID 15197604 2004 Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

PMID 21079185 2010 Four novel cases of periaxin-related neuropathy and review of the literature.

PMID 22847150 2012 Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

rs104894708 in PRX gene and Peripheral demyelinating neuropathy PMID 11157804 2001 A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

PMID 22847150 2012 Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

PMID 21079185 2010 Four novel cases of periaxin-related neuropathy and review of the literature.

PMID 26059842 2016 The use of whole-exome sequencing to disentangle complex phenotypes.

PMID 15197604 2004 Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.