TY - JOUR
TI - A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth
syndrome
AU - Bachou, Theodora
AU - Giannakopoulos, Aris
AU - Trapali, Christina and
AU - Vazeou, Andriani
AU - Kattamis, Antonis
JO - BLOOD CELLS MOLECULES AND DISEASES
PY - 2009
VL - 42
TODO - 3
SP - 262-264
PB - ACADEMIC PRESS INC ELSEVIER SCIENCE
SN - 1079-9796
TODO - 10.1016/j.bcmd.2008.11.004
TODO - Barth syndrome; Novel mutation; TAZ gene
TODO - 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.
ER -