Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome

American Journal of Human Genetics

Volumn 61, Issue 4, 1997, Pages 868-872

  Bleyl, Steven B ^a   Mumford, Brian R ^a   Thompson, Victor ^a   Carey, John C ^a   Pysher, Theodore J ^a   Chin, Thomas K ^a   Ward, Kenneth ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CAENORHABDITIS ELEGANS; CLINICAL FEATURE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GROWTH RETARDATION; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; INFANT; MITOCHONDRION; NEUTROPENIA; PATIENT CARE; PRIORITY JOURNAL; SYNDROME; X CHROMOSOMAL INHERITANCE;

CAENORHABDITIS ELEGANS;

EID: 0030774767     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/514879     Document Type: Article

References (14)

1. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403-410
2. Barth PG, Scholte HR, Berden JA, Van Der Klei-Van Moorsel JM, Luyt-Houwen IEM, Van'T Veer-Korthof ETH, Van Der Harten JJ, et al (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle, and neutrophil leukocytes. J Neurol Sci 62:327-355
3. Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (1996) A novel X-linked gene, G4.5, is responsible for Barth syndrome. Nat Genet 12:385-389
4. Bleyl SB, Mumford BR, Brown-Harrison M, Pagotto L, Carey JC, Pysher TJ, Ward K, et al (1997) Xq28-linked non-compaction of the left ventricular myocardium (INVM): prenatal diagnosis and pathologic analysis of an affected family. Am J Med Genet 72:257-265
5. Bleyl S, Nelson L, Odelberg SJ, Ruttenberg HD, Otterud B, Leppert M, Ward K (1995) A gene for familial total anomalous plmonary venous return maps to chromosome 4p13-q12. Am J Hum Genet 56:408-415
6. Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R (1990) Isolated noncompaction of left ventricular myocardium: a study of eight cases. Circulation 82:507-513
7. Gedeon AK, Wilson MJ, Colley AC, Sillence DO, Mulley JC (1995) X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J Med Genet 32:383-388
8. Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498
9. Palmieri G, Romano G, Ciccodicola A, Casamassimi A, Campanile C, Esposito T, Cappa V, et al (1994) YAC contig organization and CpG island analysis in Xq28. Genomics 24:149-158
10. Pearson WR (1990) Rapid and sensitive sequence comparison with FASTP and FASTA. Methods Enzymol 183:63-98
11. Rust S, Funke H, Assmann G (1993) Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection. Nucleic Acids Res 21: 3623-3629
12. Sambrook J, Fritsch EF, Maniatis, T (1989) Molecular cloning: a laboratory manual, 2d ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
13. Willard HF, Cremers F, Mandel JL, Monaco AP, Nelson DL, Schlessinger D (1994) Report of the Fifth International Workshop on Human X Chromosome Mapping 1994. Cytogenet Genet Cell Genet 67:296-328
14. Wilson R, Ainscough R, Anderson K, Baynes C, Berks M, Bonfield J, Burton J, et al (1994) 2.2 Mb of contiguous nucleotide sequence from chromosome III of C. Elegans. Nature 368:32-38