Condition: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
rs144750655
in
PLEKHG5
gene and
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
PMID 17564964
2007 The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
PMID 23777631
2013 PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
PMID 23844677
2013 Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.