Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations
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DOI: 10.1212/wnl.0000000000006320
Abstract: Biallelic mutations in the elaC ribonuclease Z 2 (ELAC2) gene cause a rare mitochondrial disease, the main features of which are hypertrophic cardiomyopathy, delayed psychomotor development, and usually death during childhood.1 Only 20 families have… read more here.
Keywords: psychosis acanthocytosis; prolonged survival; acanthocytosis prolonged; chorea psychosis ... See more keywords
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy
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DOI: 10.3390/life13020445
Abstract: Transcription of mitochondrial DNA generates long polycistronic precursors whose nucleolytic cleavage yields the individual mtDNA-encoded transcripts. In most cases, this cleavage occurs at the 5′- and 3′-ends of tRNA sequences by the concerted action of… read more here.
Keywords: novel elac2; cardiomyopathy; variably severe; severe neurological ... See more keywords