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Article

Barth syndrome: an X-linked cardiomyopathy with a novel mutation.

Indian journal of pediatrics - 1 Dec 2010

Aljishi Emtethal, Ali Fouad

Abstract excerpt

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...

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PMID: 20981509
DOI: 10.1007/s12098-010-0222-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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