A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy

Volume: 62, Issue: 5, Pages: 539 - 547
Published: Jan 26, 2017
Abstract
Tafazzin, encoded by the TAZ gene, is a mitochondrial membrane-associated protein that remodels cardiolipin (CL), an important mitochondrial phospholipid. TAZ mutations are associated with Barth syndrome (BTHS). BTHS is an X-linked multisystemic disorder affecting usually male patients. Through sequence analysis of TAZ, we found one novel mutation c.39_60del p.(Pro14Alafs*19) by whole-exome sequencing and a reported missense mutation c.280C>T...
Paper Details
Title
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy
Published Date
Jan 26, 2017
Volume
62
Issue
5
Pages
539 - 547
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