Article
Random X chromosome methylation patterns in the carriers with clinical phenotypic expressions of X-linked recessive bulbospinal neuronopathy.
Acta neurologica Scandinavica - 1 Oct 1999
Chen R S, Huang C C, Chu N S, Cheng C C, Wei Y H
Abstract excerpt
OBJECTIVES: We report the unusual phenotypic expression in 2 female carriers of a family with X-linked recessive bulbospinal neuronopathy (X-BSN). We analyze the methylation pattern of the androgen receptor (AR) gene to inspect the possibility of non-random X chromosome inactivation to be the underlying mechanism. MATERIAL AND METHODS: Twenty-three members in 3 generations of a Taiwanese family were examined and...
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