Barth Syndrome: An X-linked Cardiomyopathy with a Novel Mutation.
Indian J Pediatr
;
2010 Dec ; 77 (12): 1432-1433
Artigo
em Inglês
| IMSEAR
| ID: sea-157199
ABSTRACT
The authors report a 6 yr old boy with Barth syndrome who presented with cardiomyopathy, neutropenia and hypotonia. Urine gas chromatography showed high level of 3-methylglutaconic acid. The DNA of both the patient and the mother showed a heterozygous 3 bp deletion in exon 8 of the tafazzin gene. This abnormality involves the deletion of the bases TGA starting at cDNA nucleotide 891 (c891_893delTGA), resulting in the absence of glutamic acid at codon 202 from a highly conserved area of the tafazzin protein, consistent with the diagnosis of Barth syndrome. This is the first case report of Barth syndrome in Arab population emphasizing the importance of detailed investigations in cases of hereditary cardiomyopathy.
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IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2010
Tipo de documento:
Artigo
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