TY - JOUR
T1 - A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy
AU - Santorelli, Filippo M.
AU - Mak, Suk Chun
AU - Vàzquez-Acevedo, Miriam
AU - González-Astiazarán, Adalberto
AU - Ridaura-Sanz, Cecilia
AU - González-Halphen, Diego
AU - DiMauro, Salvatore
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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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U2 - 10.1006/bbrc.1995.2697
DO - 10.1006/bbrc.1995.2697
M3 - Article
C2 - 7488201
AN - SCOPUS:0028786838
VL - 216
SP - 835
EP - 840
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 3
ER -