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Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome
Mitochondrial respiratory chain disorders are a heterogeneous group of disorders in which the underlying genetic defect is often unknown. We have identified a pathogenic mutation (c.156C>G [p.F52L]) in YARS2, located at chromosome 12p11.21, by using genome-wide SNP-based homozygosity analysis of...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2010
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2896778/ https://ncbi.nlm.nih.gov/pubmed/20598274 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.06.001 |
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