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Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation

Lookup NU author(s): Professor Rita Horvath

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Author(s): Horvath R; Garcia-Diaz B; Barros M; Sanna-Cherchi S; Emmanuele V; Akman HO; Ferreiro-Barros C; Tadesse S; El Gharaby N; DiMauro S; De Vivo D; Shokr A; Hirano M; Quinzii C

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2012

Volume: 91

Issue: 4

Pages: 729-736

Print publication date: 05/09/2012

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1016/j.ajhg.2012.08.019

DOI: 10.1016/j.ajhg.2012.08.019


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