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MT-ND5 gene mutation
Clinical significance:
- defects in MT-ND5 are a cause of
a) Leber hereditary optic neuropathy
b) myoclonic epilepsy associated with ragged-red fibers (MERRF)
c) Leigh syndrome
d) complex 1 mitochondrial respiratory chain deficiency
e) MELAS syndrome
Related
NADH dehydrogenase subunit-5 (MT-ND5)
General
gene mutation testing; gene mutation analysis
References
Loinc