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).
ASJC Scopus subject areas
- Clinical Neurology