Barth syndrome

Barth syndrome
an X-linked disorder caused by mutation in the TAZ gene (locus: q28), which encodes a protein of unknown function that is highly expressed in cardiac and skeletal muscle, characterized by dilated cardiomyopathy, hypotonia, neutropenia, and growth retardation, with moderately increased urinary excretion of 3-methylglutaconic and 3-methylglutaric acids. Called also 3-methylglutaconicaciduria type II.

Medical dictionary. 2011.

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  • Barth syndrome — Barth syndrome. См. синдром Барта. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Barth syndrome — Infobox Disease Name = Barth syndrome Caption = DiseasesDB = 29297 ICD10 = ICD9 = ICD9|759.89 ICDO = OMIM = 302060 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Barth syndrome (BTHS), also known as 3 Methylglutaconic aciduria type II… …   Wikipedia

  • Barth — [bart] (english beard ) can mean:People*Edgar Barth (1917 1965), a German race car driver *Fredrik Barth (1928 ), a Norwegian anthropologist *Heinrich Barth (1821 1865), a German explorer *Heinz Barth (1920 2007), Waffen SS leader *John Barth… …   Wikipedia

  • Syndrome de Barth — Le syndrome de Barth est une grave maladie génétique liée à l X qui touche essentiellement les garçons. Ce syndrome doit son nom à son découvreur, le pathologiste français Jean Baptiste Barth (1806 1877). Sommaire 1 Les symptômes 1.1 La… …   Wikipédia en Français

  • Syndrome post-commotionnel — Classification et ressources externes CIM 10 F07.2 CIM 9 310.2 eMedicine …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Síndrome de Barth — Clasificación y recursos externos CIE 9 759.89 OMIM 302060 …   Wikipedia Español

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