Article
Infantile mitochondrial disorders.
Bioscience reports - 1 Jun 2007
Carrozzo Rosalba, Piemonte Fiorella, Tessa Alessandra, Lucioli Simona, Rizza Teresa, Meschini Maria Chiara, Fattori Fabiana, Santorelli Filippo M
Abstract excerpt
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.
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