Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children
In the field of mitochondrial medicine, correlation of clinical phenotype with mutation heteroplasmy remains an outstanding question with few, if any, clear thresholds corresponding to a given phenotype. The m.8344A>G mutation is most commonly associated with myoclonus epilepsy and ragged red fib...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2021-03-01
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| Series: | Child Neurology Open |
| Online Access: | https://doi.org/10.1177/2329048X21991382 |