Condition: Peripheral demyelinating neuropathy
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.