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Condition: Cardiomyopathy
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Splicing mutation in < em > TAZ < /em > gene leading to exon skipping and Barth syndrome
Acta Myol. 2021 Jun 30;40(2):88-92. doi: 10.36185/2532-1900-047. eCollection 2021 Jun.ABSTRACTBarth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (TAZ). A 3 years old boy with dilated cardiomyopathy, neutropenia and growth retardation was investigated. Genetic screening found a new variant in the junction of intron 2 and exon 3 of the TAZ gene - c.239-1_239delinsTT. Functional analysis of the variant revealed the aberrant splicing of exon 3 leading to its complete exci...
Source: Acta Myologica - August 6, 2021 Category: Neurology Authors: Larysa Sivitskaya Nina Danilenko Iryna Motuk Nikolai Zhelev Source Type: research
