Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.

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Title: Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
Authors: Cafournet, Cérane1 (AUTHOR), Zanin, Sofia1 (AUTHOR), Guimier, Anne2,3 (AUTHOR), Hully, Marie4 (AUTHOR), Assouline, Zahra5 (AUTHOR), Barcia, Giulia5 (AUTHOR), de Lonlay, Pascale6 (AUTHOR), Steffann, Julie1,5 (AUTHOR), Munnich, Arnold1 (AUTHOR), Bonnefont, Jean-Paul1,5 (AUTHOR), Rötig, Agnès1 (AUTHOR), Ruzzenente, Benedetta1 (AUTHOR), Metodiev, Metodi D.1 (AUTHOR) metodi.metodiev@inserm.fr
Source: Life (2075-1729). Feb2023, Vol. 13 Issue 2, p445. 12p.
Database: Academic Search Ultimate
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ISSN:20751729
DOI:10.3390/life13020445