Novel Mutations in the TAZ Gene in Patients with Barth Syndrome

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10192329" target="_blank" >RIV/00216208:11110/13:10192329 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/13:10192329 RIV/00064190:_____/13:#0000774 RIV/00064165:_____/13:10192329

Result on the web

<a href="http://pmr.cuni.cz/file/5661/PMR2013A0017.pdf" target="_blank" >http://pmr.cuni.cz/file/5661/PMR2013A0017.pdf</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Novel Mutations in the TAZ Gene in Patients with Barth Syndrome

Original language description

Barth syndrome is an X-linked recessive disorder that is caused by mutations in Taffazin gene (TAZ), leading to severe cardiolipin deficiency which results in respiratory chain dysfunction. Barth syndrome is characterized by cardiomyopathy, neutropenia,skeletal myopathy, growth deficiency and 3-methylglutaconic aciduria. In this paper, we present clinical, biochemical and molecular data of the first four Czech patients from four unrelated families diagnosed with this rare disease. The mean age of onsetwas 5.5 +- 3.8 months. One child suffered from sudden cardiac death at the age of 2 years, the age of living patients is between 3 and 13 years. Muscle hypotonia was present in all four patients; cardiomyopathy and growth retardation in three and neutropenia in two of them. Two patients manifested a dilated and one patient a hypertrophic cardiomyopathy. A characteristic laboratory abnormality was the intermittently increased excretion of 3-methylglutaconic acid. Three novel hemizygous m

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Prague medical report

ISSN

1214-6994

e-ISSN

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Volume of the periodical

114

Issue of the periodical within the volume

3

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

15

Pages from-to

139-153

UT code for WoS article

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EID of the result in the Scopus database

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