Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711772
Reference11 articles.
1. Bakkeren JAJM, Sengers RCA, Ruitenbeck W, Trijbels JMF (1992) 3-Methylglutaconic aciduria in a patient with a disturbed energy metabolism.Eur J Pediatr 151: 313.
2. Barth PG, Scholte HR, Berden JA et al (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.J Neurol Sci 62: 327?355.
3. Birch-Machin MA, Briggs HL, Saborido AA, Bindoff LA, Turnbull DM (1994) An evaluation of the measurement of the activities of complexes I?IV in the respiratory chain of human skeletal muscle mitochondria.Biochem Med Metab Biol 51: 35?42.
4. Chitayat D, Chemke J, Gibson KM et al (1992) 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a ?new? type (type 4).J Inher Metab Dis 15: 204?212.
5. Christodoulou J, McInnes RR, Jay V et al (1994) Barth syndrome: clinical observations and genetic linkage studies.Am J Med Genet 50: 255?264.
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