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M itochondrial c erebellar a taxia, r enal failure, n europathy, and e ncephalopathy (MCARNE)

Year: 2019
Type: article
Study design: Case Report
Abstract: Mitochondrial NADH dehydrogenase 5 (MT-ND5) Asp393Asn missense mutation is established to cause mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS).1,2 We describe a case and family with this mutation and a divergent phenotype that eluded diagnosis. We suggest an expanded nomenclature, m itochondrial c erebellar a taxia, r enal failure, n europathy, and e ncephalopathy (MCARNE).
DOI: 10.1212/nxg.0000000000000314
Authors: Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, Linda Hasadsri, Edward W. Highsmith, Mary E. Fidler, Ralitza H. Gavrilova, Christopher J. Klein
Institution: Mayo Clinic
Language: Hebrew
Open Access status: gold
Estimated APC paid: $3,300
OpenAlex ID: W2921457504
FWCI: 0.287
Cites: 7
Cited by: 7
Related to: 10