TY - JOUR
T1 - Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene
AU - Bruno, Claudio
AU - Sacco, Oliviero
AU - Santorelli, Filippo M.
AU - Assereto, Stefania
AU - Tonoli, Emmanuel
AU - Bado, Massimo
AU - Rossi, Giovanni A.
AU - Minetti, Carlo
PY - 2003/4/1
Y1 - 2003/4/1
N2 - We report a novel T14687C mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene in a 16-year-old boy with myopathy and lactic acidosis, retinopathy, and progressive respiratory failure leading to death. A muscle biopsy showed cytochrome c oxidase - negative ragged-red fibers, and biochemical analysis of the respiratory chain enzymes in muscle homogenate revealed complex I and complex IV deficiencies. The mutation, which affects the trinucleotide (TΨC) loop, was nearly homoplasmic in the muscle DNA of the proband, but it was absent in his blood and in the blood from the asymptomatic mother, suggesting that it may have been a spontaneous somatic mutation in muscle.
AB - We report a novel T14687C mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene in a 16-year-old boy with myopathy and lactic acidosis, retinopathy, and progressive respiratory failure leading to death. A muscle biopsy showed cytochrome c oxidase - negative ragged-red fibers, and biochemical analysis of the respiratory chain enzymes in muscle homogenate revealed complex I and complex IV deficiencies. The mutation, which affects the trinucleotide (TΨC) loop, was nearly homoplasmic in the muscle DNA of the proband, but it was absent in his blood and in the blood from the asymptomatic mother, suggesting that it may have been a spontaneous somatic mutation in muscle.
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M3 - Article
C2 - 12760436
AN - SCOPUS:0038289245
VL - 18
SP - 300
EP - 303
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 4
ER -