Τίτλος:
A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth
syndrome
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Barth Syndrome (BTHS) is a rare X-linked recessive inborn error of
metabolism, which is characterized by dilated cardiomyopathy,
neutropenia, skeletal myopathy and short stature. Barth Syndrome is
associated with mutations in the tafazzin (TAZ) gene at Xq28 that result
in cardiolipin deficiency and abnormal mitochondria. Here we report a
5.5-month old boy with BTHS phenotype who carries a novel missense T43P
mutation in exon 2 of the TAZ gene. (C) 2009 Elsevier Inc. All rights
reserved.
Συγγραφείς:
Bachou, Theodora
Giannakopoulos, Aris
Trapali, Christina and
Vazeou, Andriani
Kattamis, Antonis
Περιοδικό:
BLOOD CELLS MOLECULES AND DISEASES
Εκδότης:
ACADEMIC PRESS INC ELSEVIER SCIENCE
Λέξεις-κλειδιά:
Barth syndrome; Novel mutation; TAZ gene
DOI:
10.1016/j.bcmd.2008.11.004
