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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction

Fig. 1

Spectrophotometric analyses of OxPhos complex activities. Respiratory chain enzyme activity measurements showed severe Complex I (NADH), Complex II + III, and Complex IV (COX) defects in skeletal muscle controls. The enzymatic activities of respiratory chain complexes in muscle biopsy from the MTMR5/SBF1 patient are normalized as ratios to citrate synthase (CS) activity and the data are expressed as percentage of controls (n. 2). All statistical analyses were performed using PRISM® analytical software (GraphPad Inc.)

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BMC Medical Genomics

ISSN: 1755-8794

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