Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.

Biebermann, Heike; Ambrugger, Petra; Tarnow, Patrick; von Moers, Arpad; Schweizer, Ulrich; Grueters, Annette

Biebermann, Heike; Ambrugger, Petra; Tarnow, Patrick; von Moers, Arpad; Schweizer, Ulrich; Grueters, Annette.

Affiliation

Biebermann H; Department of Pediatric Endocrinology, Charité Children's Hospital, Humboldt University Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

Eur J Endocrinol ; 153(3): 359-66, 2005 Sep.

Article in En | MEDLINE | ID: mdl-16131597

Subject(s)

Mental Retardation, X-Linked/genetics; Monocarboxylic Acid Transporters/genetics; Muscle Hypotonia/genetics; Point Mutation; Animals; CHO Cells; Child, Preschool; Cricetinae; Female; Humans; Male; Mental Retardation, X-Linked/metabolism; Monocarboxylic Acid Transporters/metabolism; Muscle Hypotonia/metabolism; Symporters; Thyrotropin/blood; Thyrotropin-Releasing Hormone/blood; Thyrotropin-Releasing Hormone/therapeutic use; Thyroxine/blood; Thyroxine/therapeutic use; Triiodothyronine/blood; Triiodothyronine/therapeutic use

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Collection: 01-internacional Database: MEDLINE Main subject: Point Mutation / Monocarboxylic Acid Transporters / Mental Retardation, X-Linked / Muscle Hypotonia Type of study: Prognostic_studies Limits: Animals / Child, preschool / Female / Humans / Male Language: En Journal: Eur J Endocrinol Journal subject: ENDOCRINOLOGIA Year: 2005 Type: Article Affiliation country: Germany

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