Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation

Journal of Neurology

Volumn 257, Issue 7, 2010, Pages 1202-1204

  Hamaguchi, Ayumi ^a   Ishida, Chiho ^b   Iwasa, Kazuo ^a   Abe, Akiko ^c   Yamada, Masahito ^a  

^a KANAZAWA UNIVERSITY   (Japan)

^b National Hospital Organization Iou National Hospital   (Japan)

^c YAMAGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DNA FRAGMENT; GLYCINE; GLYCINE TRANSFER RNA LIGASE; LEUCINE; NUCLEOTIDE; PROLINE;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARM; BLOOD LEVEL; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CATALYSIS; CHILD; ELECTROMYOGRAPHY; EXON; EXTENSOR MUSCLE; FINGER; GAIT DISORDER; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INTRON; LETTER; MALE; MUSCLE WEAKNESS; NERVE BIOPSY; NERVE CONDUCTION; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SENSORY DYSFUNCTION; SURAL NERVE; TEMPERATURE; TENDON REFLEX; THENAR; TIBIALIS ANTERIOR MUSCLE; TOE; TOUCH; ULNAR NERVE;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLYCINE-TRNA LIGASE; HUMANS; JAPAN; MALE; MIDDLE AGED; MUSCULAR ATROPHY; MUTATION; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 77954382835     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-010-5491-x     Document Type: Letter

References (11)

1. A Antonellis RE Ellsworth N Sambuughin, et al. 2003 Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V Am J Hum Genet 72 1293 1299 10.1086/375039 1:CAS:528:DC%2BD3sXjslagu70%3D 12690580
2. A Abe K Hayasaka 2009 The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy J Hum Genet 54 310 312 10.1038/jhg.2009.25 1:CAS:528:DC%2BD1MXnsF2qs78%3D 19329989
3. W Freist DT Logan DH Gauss 1996 Glycyl-tRNA synthetase Biol Chem Hoppe Seyler 377 343 356 1:CAS:528:DyaK28XksFWjtL0%3D 8839980
4. LA Nangle W Zhang W Xie XL Yang P Schimmel 2007 Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect Proc Natl Acad Sci USA 104 11239 11244 10.1073/pnas.0705055104 1:CAS:528:DC%2BD2sXnvFGgtbk%3D 17595294
5. W Xie LA Nangle W Zhang P Schimmel XL Yang 2007 Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase Proc Natl Acad Sci USA 104 9976 9981 10.1073/pnas.0703908104 1:CAS:528:DC%2BD2sXmvVGnt70%3D 17545306
6. R Del Bo F Locatelli S Corti, et al. 2006 Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation Neurology 66 752 754 10.1212/01.wnl.0000201275.18875.ac 1:CAS:528:DC%2BD28Xhs1GrurY%3D 16534118
7. O Dubourg H Azzedine RB Yaou, et al. 2006 The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V Neurology 66 1721 1726 10.1212/01.wnl.0000218304.02715.04 1:CAS:528:DC%2BD28Xksl2hs7g%3D 16769947
8. PA James MZ Cader F Muntoni AM Childs YJ Crow K Talbot 2006 Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene Neurology 67 1710 1712 10.1212/01.wnl.0000242619.52335.bc 1:CAS:528:DC%2BD28XhtFChsLbP 17101916
9. B Rohkamm MM Reilly H Lochmuller, et al. 2007 Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome J Neurol Sci 263 100 106 10.1016/j.jns.2007.06. 047 1:CAS:528:DC%2BD2sXht1Kjtr%2FK 17663003
10. K Sivakumar T Kyriakides I Puls, et al. 2005 Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations Brain 128 2304 2314 10.1093/brain/awh590 16014653
11. RL Schellens BK van Veen AA Gabreëls-Festen SL Notermans MA van 't Hof DF Stegeman 1993 A statistical approach to fiber diameter distribution in human sural nerve Muscle Nerve 16 1342 1350 10.1002/mus.880161212 1:STN:280:DyaK2c%2FkvF2mtQ%3D%3D 8232391