Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene
Identifieur interne : 002252 ( Main/Exploration ); précédent : 002251; suivant : 002253Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene
Auteurs : Diane Doummar [France] ; Fabienne Clot [France] ; Marie Vidailhet [France] ; Alexandra Afenjar [France] ; Alexandra Durr [France] ; Alexis Brice [France] ; Cyril Mignot [France] ; Agnès Guet [France] ; Thierry Billette De Villemeur [France] ; Diana Rodriguez [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-04-30.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Tyrosine 3-Monooxygenase.
- chemical , metabolism : Homovanillic Acid, Hydroxyindoleacetic Acid.
- genetics : Muscle Hypotonia, Mutation.
- metabolism : Muscle Hypotonia.
- physiopathology : Muscle Hypotonia.
- DNA Mutational Analysis, Female, Humans, Infant.
Url:
DOI: 10.1002/mds.22455
Affiliations:
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Le document en format XML
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