Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.
Identifieur interne : 001D58 ( PubMed/Checkpoint ); précédent : 001D57; suivant : 001D59Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.
Auteurs : Diane Doummar ; Fabienne Clot ; Marie Vidailhet ; Alexandra Afenjar ; Alexandra Durr ; Alexis Brice ; Cyril Mignot ; Agnès Guet ; Thierry Billette De Villemeur ; Diana RodriguezSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
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.
DOI: 10.1002/mds.22455
PubMed: 19224593
Affiliations:
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pubmed:19224593Le document en format XML
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<tree><noCountry><name sortKey="Afenjar, Alexandra" sort="Afenjar, Alexandra" uniqKey="Afenjar A" first="Alexandra" last="Afenjar">Alexandra Afenjar</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name>
<name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name>
<name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Guet, Agnes" sort="Guet, Agnes" uniqKey="Guet A" first="Agnès" last="Guet">Agnès Guet</name>
<name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name>
<name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
<name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
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