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Autosomal recessive congenital cerebellar ataxia
- ... Tests of AMACR PubMed BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 ALPHA-METHYLACYL-CoA RACEMASE; AMACR NCBI Gene ClinVar Dick D, Horvath R, Chinnery PF. AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. Neurology. 2011 May 17;76(20):1768-70. ...