A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype.
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DOI: 10.3233/jnd-221532
Abstract: BACKGROUND The number of mutations in nuclear encoded genes causing mitochondrial disease is ever increasing. Identification of these mutations is particularly important in the diagnosis of neuromuscular disorders as their presentation may mimic other acquired… read more here.
Keywords: mitochondrial fission; mff; mitochondrial phenotype; mild mitochondrial ... See more keywords