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.
Infantile Mitochondrial Disorders
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Rosalba Carrozzo, Fiorella Piemonte, Alessandra Tessa, Simona Lucioli, Teresa Rizza, Maria Chiara Meschini, Fabiana Fattori, Filippo M. Santorelli; Infantile Mitochondrial Disorders. Biosci Rep 13 June 2007; 27 (1-3): 105–112. doi: https://doi.org/10.1007/s10540-007-9039-y
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