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Keywords: Phenotypic heterogeneity
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Journal Articles
Biol Open (2024) 13 (2): bio060278.
Published: 28 February 2024
... mitochondrial disease can exhibit broad phenotypic heterogeneity, which is poorly understood. Mutations in subunits of mitochondrial respiratory complex I cause complex I deficiency, which can result in severe neurological symptoms and death in infancy. However, some complex I deficiency patients present...
Includes: Supplementary data