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Table 1 OXPHOS enzyme activities in cultured skin fibroblasts from P1

From: Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality

OXPHOS enzymatic activity

Fibroblast mitochondria

Patient

Control range

Units

Complex I

118

279–1076

mU/U COX

Complex II (SDH)

786

375–2692

mU/U COX

Complex II + III

607

325–649

mU/U COX

Complex III

1737

623–3534

mU/U COX

Complex IV (COX)

474

288–954

mU/U CS

Complex V (ATP synthase)

1244

480–2705

mU/U COX

Citrate synthase (CS)

602

151–449

mU/mg per min

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172