Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome

Annals of Neurology

Volumn 51, Issue 5, 2002, Pages 634-637

  Schlame, Michael ^a,e   Towbin, Jeffrey A ^b   Heerdt, Paul M ^c   Jehle, Roswitha ^c   DiMauro, Salvatore ^d   Blanck, Thomas J J ^a,e  

^a HOSPITAL FOR SPECIAL SURGERY   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

^d Department of Neurology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain   (United States)

^e NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; PHOSPHOLIPID; TETRALINOLEOYLCARDIOLIPIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BARTH SYNDROME; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; HEART LEFT VENTRICLE; HEART RIGHT VENTRICLE; HUMAN; HUMAN CELL; HUMAN TISSUE; MITOCHONDRIAL MYOPATHY; PRIORITY JOURNAL; SKELETAL MUSCLE; THROMBOCYTE; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; AGED; ANIMALS; BLOOD PLATELETS; CARDIOLIPINS; CELL LINE; CHILD; CHILD, PRESCHOOL; DOGS; FEMALE; HUMANS; INFANT; LINOLEIC ACID; MALE; MICE; MICE, INBRED C3H; MIDDLE AGED; MITOCHONDRIA, HEART; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; MYOCARDIUM; RATS; RATS, SPRAGUE-DAWLEY;

EID: 0036228186     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10176     Document Type: Article

References (13)

1. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
2. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) - MIM 302060
3. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
4. A novel X-linked gene, G4.5, is responsible for Barth syndrome
5. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
6. An X-linked recessive cardiomyopathy with abnormal mitochondria
7. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes
8. Barth syndrome may be due to an acyltransferase deficiency
9. Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome
10. The biosynthesis and functional role of cardiolipin
11. Lysocardiolipin formation and reacylation in isolated rat liver mitochondria
12. Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease
13. Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation)