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

Author:

Beatriz Garcia-Diaz,Mario H. Barros,Simone Sanna-Cherchi,Valentina Emmanuele,Hasan O. Akman,Claudia C. Ferreiro-Barros,Rita Horvath,Saba Tadesse,Nader El Gharaby,Salvatore DiMauro,Darryl C. De Vivo,Aly Shokr,Michio Hirano,Catarina M. Quinzii

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

5 October 2012

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