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.