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Reduced protein kinase C delta in a high molecular weight complex in mitochondria and elevated creatine uptake into Barth syndrome B lymphoblasts. [PDF]
J Transl Genet GenomMejia EM +3 more
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Clinical Laboratory Studies in Barth Syndrome
Molecular Genetics and Metabolism, 2014 Barth Syndrome is a rare X-linked disorder characterized principally by dilated cardiomyopathy, skeletal myopathy and neutropenia and caused by defects in tafazzin, an enzyme responsible for modifying the acyl chain moieties of cardiolipin. While several comprehensive clinical studies of Barth Syndrome have been published detailing cardiac and ...
Hilary J Vernon +2 more
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Barth Syndrome Cardiomyopathy: An Update
Genes, 2022 Barth syndrome (BTHS) is an X-linked mitochondrial lipid disorder caused by mutations in the TAFAZZIN (TAZ) gene, which encodes a mitochondrial acyltransferase/transacylase required for cardiolipin (CL) biosynthesis. Cardiomyopathy is a major clinical feature of BTHS.
Xi Fang, Yutong Bao
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Dysmorphology of Barth syndrome
Clinical Dysmorphology, 2009Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial description of this condition by Barth et ...
Rob, Hastings +3 more
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Heart Transplantation for Barth Syndrome
Pediatric Cardiology, 1997Barth syndrome is an X-linked recessive disorder comprising dilated cardiomyopathy, muscular hypotonia, and cyclical neutropenia. Affected children usually die during infancy as a consequence of septicemia, cardiac failure, or both. We report a patient with Barth syndrome who underwent successful heart transplantation.
M R de Leval
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CLINICOPATHOLOGIC CONFERENCE: BARTH SYNDROME
Fetal and Pediatric Pathology, 2005A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current understanding of etiology is included, including elevation of 3-methylglutaconic acid (3MGC).
James C, Huhta +2 more
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Haematological features in Barth syndrome
Current Opinion in Hematology, 2013This review highlights recent advances concerning pathogenesis, clinical presentation, diagnosis and treatment of Barth syndrome with particular regard to haematological abnormalities (e.g., neutropenia).Directed motility and killing activity of neutrophils is normal in patients with Barth syndrome, but neutrophils and eospinophils show ...
Josef, Finsterer, Marlies, Frank
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Cardiolipin metabolism and Barth Syndrome
Progress in Lipid Research, 2006Many advances have occurred in the field of Barth Syndrome biology in the 26 years since it was first described as an X-linked cardiomyopathy. Barth Syndrome is the first human disease recognized in which the primary causative factor is an alteration in cardiolipin remodeling. Cardiolipin is required for the optimal function of many proteins within the
Kristin D, Hauff, Grant M, Hatch
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Barth syndrome in a female patient
Molecular Genetics and Metabolism, 2012BACKGROUND: Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. It is caused by mutations in the TAZ gene coding for the tafazzin, a protein involved in the remodeling of cardiolipin.
Cosson, Laure +11 more
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