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Infantile mitochondrial disorders.

Bioscience reports (2007-05-09)
Rosalba Carrozzo, Fiorella Piemonte, Alessandra Tessa, Simona Lucioli, Teresa Rizza, Maria Chiara Meschini, Fabiana Fattori, Filippo M Santorelli
ABSTRACT

Mitochondrial disorders encompass any medical specialty and affect patients at any age. Likewise, the spectrum of clinical and genetic signatures of these disorders is ample, making a precise diagnosis difficult. We will report some of the major clinical phenotypes observed in infancy, their underlining molecular features, and will propose an approach to reach a more complete diagnosis.