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...

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Detalles Bibliográficos
Autores principales: Russo, Sam Nicholas, Goldstein, Amy, Karaa, Amel, Koenig, Mary Kay, Walker, Melissa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7930645/
https://www.ncbi.nlm.nih.gov/pubmed/33718511
http://dx.doi.org/10.1177/2329048X21991382

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7930645/
https://www.ncbi.nlm.nih.gov/pubmed/33718511
http://dx.doi.org/10.1177/2329048X21991382

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