Article
Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus.
Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2006
Shang Hui-Fang, Jiang Xiao-Feng, Burgunder Jean-Marc, Chen Qin, Zhou Dong
Abstract excerpt
In a Chinese woman who had diabetes mellitus, undetectable ceruloplasmin, hand tremor, neck dystonia, and cognitive disturbances, genetic analyses revealed a novel homozygous mutation (848G > C or W283S) in exon 5 in the ceruloplasmin gene. Another member with a milder phenotype was also affected by this mutation. The healthy sister was heterozygous at the same position. Aceruloplasminemia has not yet been...
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