Condition: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R


rs587777063 in TRIM2 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R PMID 23562820 2013 Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.

PMID 25893792 2015 Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.