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

2019; Wolters Kluwer; Volume: 5; Issue: 2 Linguagem: Inglês

10.1212/nxg.0000000000000314

2376-7839

Peng Soon Ng, Marcus Vinícius Pinto, Jadee Neff, Linda Hasadsri, Edward W. Highsmith, Mary E. Fidler, Ralitza H. Gavrilova, Christopher J. Klein,

ATP Synthase and ATPases Research

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).