Article
X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq.
Annals of neurology - 1 Jul 1996
Illarioshkin S N, Tanaka H, Markova E D, Nikolskaya N N, Ivanova-Smolenskaya I A, Tsuji S
Abstract excerpt
We examined a large family in which an X-linked recessive congenital ataxia manifested in 7 males from three generations. The affected boys first exhibited a marked delay of early developmental motor milestones. A neurological syndrome became evident by 5 to 7 years of age and included cerebellar ataxia, dysarthria, and external ophthalmoplegia; there were no symptoms of mental retardation, spastic paraparesis,...
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