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Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.

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Academic year: 2021

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Figure

Figure 1 Brain T-1 weighted magnetic resonance imaging showing marked cerebellar atrophy in P1 at the age of 9 years (panel A) and 14 years (panel B), and in P2 at the age of 18 years (panel C)
Table 1 Analysis of plasma VLCFAs, branched-chain fatty acids and bile acids intermediates

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