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The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene
m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail t...
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| Publicado no: | Mol Genet Metab Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4789386/ https://ncbi.nlm.nih.gov/pubmed/27014580 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.02.003 |
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