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A parkinsonian movement disorder with brain iron deposition and a haemochromatosis mutation

✍ Scribed by Stefan Williams, Maruthi Ravi Vinjam, Azzam Ismail, Ahamad Hassan


Book ID
120898637
Publisher
Springer
Year
2013
Tongue
English
Weight
186 KB
Volume
260
Category
Article
ISSN
0340-5354

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## Abstract 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