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.