Condition: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
rs137852972
in
BSCL2;HNRNPUL2-BSCL2
gene and
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
PMID 17663003
2007 Four patients diagnosed with
dHMN-V
or SS carried known heterozygous BSCL2 mutations (
N88S
and S90L).
PMID 14981520
2004 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
PMID 17663003
2007 Four patients diagnosed with
dHMN-V
or SS carried known heterozygous BSCL2 mutations (N88S and
S90L
).
rs137852644
in
GARS1
gene and
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
PMID 23279345
2012 Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.
PMID 12690580
2003 Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
PMID 17035524
2006 Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.
PMID 26503042
2015 CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
PMID 24627108
2014 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.