Infantile Mitochondrial Disorders. Issue 1 (13th June 2007)

• Record Type: Journal Article
• Authors: Carrozzo, Rosalba; Piemonte, Fiorella; Tessa, Alessandra; Lucioli, Simona; Rizza, Teresa; Meschini, Maria Chiara; Fattori, Fabiana; Santorelli, Filippo M.
• Is Part Of: Bioscience reports. Volume 27:Issue 1/3(2007)
• Page Start: 105
• Page End: 112
• Publication Date: 2007-06-13
• Subjects: mtDNA -- Mitochondrial diseases -- Infancy -- Coenzyme Q10 -- SUCLA2; Molecular biology -- Periodicals; Cytology -- Periodicals; 572.8
• DOI: 10.1007/s10540-007-9039-y
• Languages: English
• ISSNs: 0144-8463

Abstract

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.