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 language | English (US) |
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Article number | e314 |
Journal | Neurology: Genetics |
Volume | 5 |
Issue number | 2 |
DOIs | |
State | Published - Apr 1 2019 |
ASJC Scopus subject areas
- Clinical Neurology
- Genetics(clinical)