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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Antonellis, Anthony Sivakumar, Kumaraswamy Fischbeck, Kenneth H. Green, Eric D. Kremensky, Ivo Jordanova, Albena Sambuughin, Nyamkhishig Abel, Annette Middleton, Lefkos T. Christodoulou, Kyproula Ellsworth, Rachel E. Vance, Jeffery M. Goldfarb, Lev G. Ionasescu, Victor Lee-Lin, Shih-Queen Puls, Imke Funalot, Benoit |
| Description | Country affiliation: United States Author Affiliation: Antonellis A ( Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.) |
| Abstract | 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. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human chromosome 7p. Here, we report the identification of four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with CMT2D and dSMA-V. This is the first example of an aminoacyl tRNA synthetase being implicated in a human genetic disease, which makes genes that encode these enzymes relevant candidates for other inherited neuropathies and motor neuron diseases. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 5 |
| Volume Number | 72 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2003-05-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Charcot-marie-tooth Disease Genetics Glycine-trna Ligase Muscular Atrophy, Spinal Mutation, Missense Amino Acid Sequence Classification Chromosomes, Human, Pair 7 Dna Mutational Analysis Genes, Dominant Molecular Sequence Data Pedigree Physical Chromosome Mapping Sequence Homology, Amino Acid Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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