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Cerebrotendinous xanthomatosis: report of two Brazilian brothers

Marcos Christiano Lange1, Viviane Flumignan Zétola, Helio A G Teive

  • 1Serviço de Neurologia, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.

Arquivos De Neuro-Psiquiatria
|December 21, 2004
PubMed

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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