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Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

✍ Scribed by Diane Doummar; Fabienne Clot; Marie Vidailhet; Alexandra Afenjar; Alexandra Durr; Alexis Brice; Cyril Mignot; Agnès Guet; Thierry Billette de Villemeur; Diana Rodriguez

Book ID
102506800
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
302 KB
Volume
24
Category
Article
ISSN
0885-3185

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## Abstract Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (__TH__) gene have been described recently. The main clinical manifestations are Segawa's disease, or infantile hypokinetic rigid Parkinsonism. Here, we report on a patient with hyperrigidity, p