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Your search keyword '"Emtethal Al-Jishi"' showing total 2 results
Start Over Author "Emtethal Al-Jishi" Topic business.industry
2 results on '"Emtethal Al-Jishi"'

1. FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy

Author

Holger Prokisch, Thomas Wieland, Lee-Jun C. Wong, Emtethal Al-Jishi, Fowzan S. Alkuraya, Daniele Ghezzi, Xiaowu Gai, Claire A. Sheldon, Richard J. Rodenburg, Caroline Biagosch, Hanah Shamseldin, Tim M. Strom, Mark A. Johnson, Aurelio Reyes, Erzsebet Polyak, Satish Srinivasan, Sara Vidoni, Julian Ostrovsky, Costanza Lamperti, Marni J. Falk, Tobias B. Haack, Matteo Gorza, Peter Freisinger, Massimo Zeviani, Neal Sondheimer, Mustafa A. Salih, Jan A.M. Smeitink, Eric A. Pierce, Francesca Furlan, Emily Place, Mark Consugar, and Mai Tsukikawa

Subjects
FBXL4, Genetics, Pathology, medicine.medical_specialty, business.industry, Leukodystrophy, Respiratory chain, Cell Biology, Mitochondrion, medicine.disease, Multisystem disease, medicine, Molecular Medicine, business, Molecular Biology, Cortical atrophy
Published
2013
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2. Barth Syndrome: An X-linked Cardiomyopathy with a Novel Mutation

Author

Emtethal Al-Jishi and Fouad Ali

Subjects
Male, medicine.medical_specialty, Tafazzin, Cardiomyopathy, medicine.disease_cause, Exon, Genes, X-Linked, Complementary DNA, Internal medicine, Humans, Medicine, Child, Gene, Genetics, Mutation, biology, business.industry, Barth syndrome, medicine.disease, Hypotonia, Endocrinology, Barth Syndrome, Pediatrics, Perinatology and Child Health, biology.protein, medicine.symptom, business, Acyltransferases, Transcription Factors
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.

Published
2010
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