Mutation analysis of the G4. 5 gene in patients with isolated left ventricular noncompaction
R Chen, T Tsuji, F Ichida, KR Bowles, X Yu… - Molecular genetics and …, 2002 - Elsevier
Mutations in the gene G4. 5, originally associated with Barth syndrome, have been reported
to result in a wide spectrum of severe infantile X-linked cardiomyopathies. The purpose of
this study was to investigate patients with isolated left ventricular noncompaction (LVNC) for
disease-causing mutations in G4. 5. In 27 patients including 10 families with isolated LVNC,
mutation analysis of G4. 5 was performed using single-strand DNA conformation
polymorphism (SSCP) analysis and DNA sequencing. A novel splice acceptor site mutation …
to result in a wide spectrum of severe infantile X-linked cardiomyopathies. The purpose of
this study was to investigate patients with isolated left ventricular noncompaction (LVNC) for
disease-causing mutations in G4. 5. In 27 patients including 10 families with isolated LVNC,
mutation analysis of G4. 5 was performed using single-strand DNA conformation
polymorphism (SSCP) analysis and DNA sequencing. A novel splice acceptor site mutation …