| Name | glycyl tRNA synthetase |
|---|---|
| Synonyms | CMT2D; SMAD1; Charcot Marie Tooth neuropathy 2D; DSMAV; GARS; GARS protein; GlyRS; Glycine tRNA ligase… |
| Name | DSMA |
|---|---|
| CAS | disodium methylarsonate |
| PubMed | Abstract | RScore(About this table) | |
|---|---|---|---|
| 9879677 | Sambuughin N, Sivakumar K, Selenge B, Lee HS, Friedlich D, Baasanjav D, Dalakas MC, Goldfarb LG: Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. J Neurol Sci. 1998 Nov 26;161(1):23-8. Two separate disorders, autosomal dominant distal spinal muscular atrophy type V (dSMA-V) characterized by marked bilateral weakness in the hands and atrophy of thenar eminence and the first interosseous muscle, and Charcot-Marie-Tooth disease type 2D (CMT2D) characterized by sensory deficits in addition to the upper limb weakness and wasting, have been independently linked to chromosome 7p. |
55(0,1,5,5) | Details |
| 10400924 | Ellsworth RE, Ionasescu V, Searby C, Sheffield VC, Braden VV, Kucaba TA, McPherson JD, Marra MA, Green ED: The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. Genome Res. 1999 Jun;9(6):568-74. Additional families have been linked subsequently to the same genomic region, including one with distal spinal muscular atrophy (dSMA) and one with mixed features of dSMA and CMT2; symptoms in both of these latter families closely resemble those seen in the original CMT2D family. |
47(0,1,3,7) | Details |
| 17035524 | Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, Myung K, Burgess S, Fischbeck KH, Green ED: Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci. 2006 Oct 11;26(41):10397-406. Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal neuropathies characterized by a phenotype that is more severe in the upper extremities. |
13(0,0,2,3) | Details |
| 12690580 | Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED: Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May;72(5):1293-9. Epub 2003 Apr 10. Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. |
13(0,0,2,3) | Details |
| 16014653 | Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG: Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain. 2005 Oct;128(Pt 10):2304-14. Epub 2005 Jul 13. Based on the presence or absence of sensory changes, the disease phenotype was initially defined as distal spinal muscular atrophy type V (dSMA-V) in three families, Charcot-Marie-Tooth disease type 2D (CMT2D) in a single family, and as either dSMA-V or CMT2D in patients of another large family. |
8(0,0,1,3) | Details |
| 19412816 | Blumen SC, Drory VE, Sadeh M, El-Ad B, Soimu U, Groozman GB, Bouchard JP, Goldfarb LG: Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease. Amyotroph Lateral Scler. 2009 May 1:1-3. Sporadic juvenile muscular atrophy of the distal upper extremity or Hirayama's disease (HD) and autosomal dominant motor distal neuronopathy/axonopathy (CMT2D/dSMA-V), produced by glycyl-tRNA synthetase (GARS) gene mutations, share some clinical features including: young age of onset, predilection for the distal upper extremity, asymmetry, sparing of proximal muscles and unusual cold sensitivity. |
7(0,0,1,2) | Details |
| 19430273 | Andreadou E, Christodoulou K, Manta P, Karandreas N, Loukaidis P, Sfagos C, Vassilopoulos D: Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family. Neurologist. 2009 May;15(3):156-60. Hypothesizing that this familial amyotrophy might be related to autosomal dominant distal spinal muscular atrophy type V (dSMA-V) that is characterized by prominent involvement of the distal upper extremities, we tested the index case for glycyl tRNA synthetase and Berardinelli-Seip congenital lipodystrophy (BSCL2) N88S and S90L gene mutations (by direct sequencing) that are involved in the development of dSMA-V phenotype. |
6(0,0,1,1) | Details |
| 16769947 | Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E: The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. Neurology. 2006 Jun 13;66(11):1721-6. BACKGROUND: Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (dSMA) is a heterogeneous group of disorders characterized almost exclusively by degeneration of motor nerve fibers, predominantly in the distal part of the limbs. |
4(0,0,0,4) | Details |