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...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Elsevier
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789386/ |