A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene
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DOI: 10.2169/internalmedicine.5037-20
Abstract: A 61-year-old Japanese man with the pure spinal form of cerebrotendinous xanthomatosis developed dysesthesia of the lower limbs and gait disturbance at 57 years of age. At 61 years old, he was unable to walk… read more here.
Keywords: pure spinal; spinal form; cyp27a1 gene; form cerebrotendinous ... See more keywords