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

Movement Disorders

Volumn 24, Issue 6, 2009, Pages 943-945

  Doummar, Diane ^a   Clot, Fabienne ^b   Vidailhet, Marie ^c   Afenjar, Alexandra ^a   Durr, Alexandra ^c   Brice, Alexis ^c   Mignot, Cyril ^c   Guet, Agnès ^c   de Villemeur, Thierry Billette ^c   Rodriguez, Diana ^c  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

LEVODOPA; TYROSINE 3 MONOOXYGENASE;

CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE COURSE; DRUG DOSE INCREASE; DYSKINESIA; DYSTONIA; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPERKINESIA; LETTER; LOW DRUG DOSE; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NUTRITIONAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; TREATMENT RESPONSE; TREMOR; TYROSINE HYDROXYLASE DEFICIENCY; WALKING DIFFICULTY;

DNA MUTATIONAL ANALYSIS; FEMALE; HOMOVANILLIC ACID; HUMANS; HYDROXYINDOLEACETIC ACID; INFANT; MUSCLE HYPOTONIA; MUTATION; TYROSINE 3-MONOOXYGENASE;

EID: 67650077597     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22455     Document Type: Letter

References (7)

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