Data from: Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations
Data files
Jul 27, 2019 version files 8.48 MB
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201804111900 Consent examining physician.pdf
40.53 KB
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Complex movement disorder.mp4
7.38 MB
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Consent_for_Publication_of_Photos_and (6).doc
23.55 KB
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Figure e-1 Brain MRI.docx
338.91 KB
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Figure e-2 PET.docx
407.09 KB
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Figure e-3 Acanthocytes.docx
75.73 KB
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Figure e-4 Electropherogram.docx
123.91 KB
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Legend to the video.docx
15.48 KB
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Supplemental data ELAC2.docx
37.76 KB
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Table e-1.docx
16.44 KB
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Table e-2.docx
22.76 KB
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. Only 20 families have been reported with this syndrome. Neither movement disorders nor psychotic features have been described as part of the spectrum of ELAC2 mutations. We describe a patient with a complex hyperkinetic syndrome and acanthocytosis, harboring biallelic ELAC2 mutations.