婴儿线粒体疾病

Infantile mitochondrial disorders.

作者信息

Carrozzo Rosalba, Piemonte Fiorella, Tessa Alessandra, Lucioli Simona, Rizza Teresa, Meschini Maria Chiara, Fattori Fabiana, Santorelli Filippo M

机构信息

Molecular Medicine, IRCCS Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.

出版信息

Biosci Rep. 2007 Jun;27(1-3):105-12. doi: 10.1007/s10540-007-9039-y.

DOI:10.1007/s10540-007-9039-y

PMID:17486440

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.

摘要

线粒体疾病涉及任何医学专业领域，可影响任何年龄段的患者。同样，这些疾病的临床和基因特征范围广泛，使得精确诊断变得困难。我们将报告一些在婴儿期观察到的主要临床表型、其潜在的分子特征，并提出一种实现更全面诊断的方法。