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Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation

Lookup NU author(s): Professor Rita HorvathORCiD

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

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2012

Volume: 91

Issue: 4

Pages: 729-736

Print publication date: 27/09/2012

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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Funding

Funder referenceFunder name
Fundacao Amparo a Pesquisa Sao Paulo
Marriott Mitochondrial Disorder Clinical Research Fund
Muscular Dystrophy Association
NICHD
Office of Dietary Supplements
American Society of Nephrology
0930151NAmerican Heart Association
K23 HD065871National Institute of Health (NIH) from the Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
R01 HD056103NIH from the NICHD
R01 HD057543NIH from the NICHD
U54NS078059National Institute of Neurological Disorders and Stroke

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