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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Friedreich ataxia in Norway – an epidemiological, molecular and clinical study

Fig. 4

Frataxin amounts in percentage of average amounts in healthy controls in subgroups of carriers and patients. The graph displays the mean relative frataxin amounts for the indicated subgroups of carriers and patients; Healthy controls (N = 27), Healthy carriers (N = 37), pFRDA carrier = healthy carrier with heterozygous point mutation in the FXN gene (N = 1), delFRDA carrier = healthy carrier with heterozygous deletion in the FXN gene (N = 1), cFRDA = classic FRDA (N = 22), FARR = Friedreichs ataxia with Retained Reflexes (N = 2), pFRDA = compound heterozygous with point mutation (N = 1), delFRDA = compound heterozygous with deletion (N = 1), Carriers with symptoms (N = 2)

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