A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy

Filippo M. Santorelli; Suk Chun Mak; Miriam Vàzquez-Acevedo; Adalberto González-Astiazarán; Cecilia Ridaura-Sanz; Diego González-Halphen; Salvatore DiMauro

doi:10.1006/bbrc.1995.2697

A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy

Filippo M. Santorelli, Suk Chun Mak, Miriam Vàzquez-Acevedo, Adalberto González-Astiazarán, Cecilia Ridaura-Sanz, Diego González-Halphen, Salvatore DiMauro

Fondazione Stella Maris

Research output: Contribution to journal › Article

Abstract

A novel mitochondrial DNA(mtDNA) mutation at position nt 4320 in the tRNA(Ile) gene was associated with severe encephalopathy in a 7-month-old infant, who died of intractable hypertrophic cardiomyopathy. The mutation was present in heteroplasmic fashion (88%) in muscle and fulfills accepted criteria for pathogenicity. This is the fourth pathogenic mutation identified in this gene, which appears to be a 'hotspot' for deleterious mutations affecting the heart. This report adds to the evidence of genetic heterogeneity in hypertrophic cardiomyopathies.

Original language	English
Pages (from-to)	835-840
Number of pages	6
Journal	Biochemical and Biophysical Research Communications
Volume	216
Issue number	3
DOIs	https://doi.org/10.1006/bbrc.1995.2697
Publication status	Published - 1995

ASJC Scopus subject areas

Biochemistry
Biophysics
Molecular Biology
Cell Biology

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Santorelli, F. M., Mak, S. C., Vàzquez-Acevedo, M., González-Astiazarán, A., Ridaura-Sanz, C., González-Halphen, D., & DiMauro, S. (1995). A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. Biochemical and Biophysical Research Communications, 216(3), 835-840. https://doi.org/10.1006/bbrc.1995.2697

A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. / Santorelli, Filippo M.; Mak, Suk Chun; Vàzquez-Acevedo, Miriam; González-Astiazarán, Adalberto; Ridaura-Sanz, Cecilia; González-Halphen, Diego; DiMauro, Salvatore.

In: Biochemical and Biophysical Research Communications, Vol. 216, No. 3, 1995, p. 835-840.

Research output: Contribution to journal › Article

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