Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)

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

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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, mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE).

Original languageEnglish (US)
Article numbere314
JournalNeurology: Genetics
Volume5
Issue number2
DOIs
StatePublished - Apr 1 2019

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

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