rs1555743003 in
ASXL3 gene and
Muscle Rigidity
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs63750687 in
PSEN1 gene and
Muscle Rigidity
PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.