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Mitochondrial Myopathy and Respiratory Failure Associated With a New Mutation in the Mitochondrial Transfer Ribonucleic Acid Glutamic Acid Gene

Neuromuscular Disease Unit Department of Pediatrics University of Genova Genova, Italy, claudiobruno{at}ospedale-gaslini.ge.it

Oliviero Sacco, MD

Division of Pneumology Giannina Gaslini Institute Genova, Italy

Filippo M. Santorelli, MD

Division of Molecular Medicine Bambino Gesù Hospital Rome, Italy

Stefania Assereto, PhD

Neuromuscular Disease Unit Department of Pediatrics University of Genova Genova, Italy

Emmanuel Tonoli, ST

Neuromuscular Disease Unit Department of Pediatrics University of Genova Genova, Italy

Massimo Bado, MD

Neuromuscular Disease Unit Department of Pediatrics University of Genova Genova, Italy

Giovanni A. Rossi, MD

Division of Pneumology Giannina Gaslini Institute Genova, Italy

Carlo Minetti, MD

Neuromuscular Disease Unit Department of Pediatrics University of Genova Genova, Italy

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 (TC) 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. (J Child Neurol 2003;18:300—303).

Journal of Child Neurology, Vol. 18, No. 4, 300-303 (2003)
DOI: 10.1177/08830738030180040401


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