Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations-Reference-Cited by-同舟云学术

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations

Published:2018-09-14 Issue:15 Volume:91 Page:710-712
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Paucar Martin,Pajak Aleksandra,Freyer Christoph,Bergendal Åsa,Döry Margit,Laffita-Mesa José Miguel,Stranneheim Henrik,Lagerstedt-Robinson Kristina,Savitcheva Irina,Walker Ruth H.,Wedell Anna,Wredenberg Anna,Svenningsson Per

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference8 articles.

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2. A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

3. The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation

4. Expanding spectrum of abnormal movements in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes);Singmaneesakulchai;Mov Disord,2012

5. Rahman S , Thorburn D . Nuclear gene-encoded Leigh syndrome overview. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews® [Internet]. Seattle: University of Washington; 1993.

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