Article
Abnormal nerve conduction features in fragile X premutation carriers.
Archives of neurology - 1 Apr 2008
Soontarapornchai Kultida, Maselli Ricardo, Fenton-Farrell Grace, Tassone Flora, Hagerman Paul J, Hessl Davis, Hagerman Randi J
Abstract excerpt
BACKGROUND: Distal neuropathy is part of the clinical phenotype in most males with the fragile X-associated tremor/ataxia syndrome (FXTAS) caused by the 55 to 200 CGG repeat expansion. METHODS: We performed nerve conduction studies in 16 male carriers with FXTAS, 11 non-FXTAS carriers, and 11 control subjects and assessed the outcomes with respect to the fragile X mental retardation 1 genotype (FMR1) (Online...
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