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MT-ATP6 gene mutation; mitochondrial ATP synthase 6 gene mutation
Clinical significance:
- defects in MT-ATP6 are the cause of
a) neurogenic muscle weakness, ataxia, & retinitis pigmentosa (NARP)
b) Leber hereditary optic neuropathy
c) Leigh syndrome
d) infantile bilateral striatal necrosis
Related
ATP synthase A chain (ATP synthase 6, protein-6, F0 a element, coupling factor 0-a, MT-ATP6, ATP6, ATPASE6, MTATP)
General
gene mutation testing; gene mutation analysis
References
Loinc