Condition: Sensorimotor neuropathy


rs1555817157 in ABHD12 gene and Sensorimotor neuropathy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555631390 in TTR gene and Sensorimotor neuropathy PMID 29941560 2018 Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease.