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MT-ND4 gene mutation
Clinical significance:
- defects in MT-ND4 are a cause of
a) Leber hereditary optic neuropathy
b) Leber optic atrophy & dystonia
c) MELAS syndrome
Pharmacology:
- investigational intravitreal gene therapy lenadogene nolparvovec (Lumevoq)
Related
NADH dehydrogenase subunit-4
General
gene mutation testing; gene mutation analysis
References
Loinc