Research article summary (published 28 Apr 2009):

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

Full Abstract

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Author information

Author/s: Doummar, Diane (D); Clot, Fabienne (F); Vidailhet, Marie (M); Afenjar, Alexandra (A); Durr, Alexandra (A); Brice, Alexis (A); Mignot, Cyril (C); Guet, Agnès (A); de Villemeur, Thierry Billette (TB); Rodriguez, Diana (D);

Journal and publication information

Publication Type: Letter; Research Support, Non-U.S. Gov't

Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord), published in United States. (Language: eng)

Reference: 2009-Apr; vol 24 (issue 6) : pp 943-5

Dates: Created 2009/05/04; Completed 2009/07/29;

PMID: 19224593, status: MEDLINE (last retrieval date: 8/20/2009, IMS Date: )

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

DNA Mutational Analysis Female Homovanillic Acid - metabolism Humans Hydroxyindoleacetic Acid - metabolism

Hydroxyindoleacetic Acid - metabolism Infant Muscle Hypotonia - genetics; metabolism; physiopathology Mutation - genetics Tyrosine 3-Monooxygenase - genetics

Associated Chemicals: Homovanillic Acid (306-08-1) ; Hydroxyindoleacetic Acid (54-16-0) ; Tyrosine 3-Monooxygenase (EC 1.14.16.2)

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