Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of t...
| Main Authors: | , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2006
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| _version_ | 1797085669702500352 |
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| author | James, P Cader, M Muntoni, F Childs, A Crow, Y Talbot, K |
| author_facet | James, P Cader, M Muntoni, F Childs, A Crow, Y Talbot, K |
| author_sort | James, P |
| collection | OXFORD |
| description | We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations. |
| first_indexed | 2024-03-07T02:11:41Z |
| format | Journal article |
| id | oxford-uuid:a0e00ffc-7eda-48c1-854a-0bde417ec69c |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T02:11:41Z |
| publishDate | 2006 |
| record_format | dspace |
| spelling | oxford-uuid:a0e00ffc-7eda-48c1-854a-0bde417ec69c2022-03-27T02:08:48ZSevere childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:a0e00ffc-7eda-48c1-854a-0bde417ec69cEnglishSymplectic Elements at Oxford2006James, PCader, MMuntoni, FChilds, ACrow, YTalbot, KWe screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations. |
| spellingShingle | James, P Cader, M Muntoni, F Childs, A Crow, Y Talbot, K Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. |
| title | Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. |
| title_full | Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. |
| title_fullStr | Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. |
| title_full_unstemmed | Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. |
| title_short | Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. |
| title_sort | severe childhood sma and axonal cmt due to anticodon binding domain mutations in the gars gene |
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