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A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. 1995
F M Santorelli, and
S C Mak, and
M Vàzquez-Acevedo, and
A González-Astiazarán, and
C Ridaura-Sanz, and
D González-Halphen, and
S DiMauro
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Dept. of Neurology, Columbia University, New York, NY, USA.
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.
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Zhonghua yi xue za zhi,
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S C Mak, and
M Vàzquez-Acevedo, and
A González-Astiazarán, and
C Ridaura-Sanz, and
D González-Halphen, and
S DiMauro
March 1996,
Biochemical and biophysical research communications,
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S C Mak, and
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No to shinkei = Brain and nerve,
