Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes

Also Consider

Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged‐red fiber disease point mutation in mitochondrial DNA1993 · 29 citations
2. 2Mitochondrial encephalomyopathy, lactic acidosis, stroke‐like episodes (MELAS): Clinical, radiological, pathological, and genetic observations1993 · 121 citations