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Biosci Rep. 2007 Jun;27(1-3):105-12.

Infantile mitochondrial disorders.

Author information

1
Molecular Medicine, IRCCS Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.

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.

PMID:
17486440
DOI:
10.1007/s10540-007-9039-y
[Indexed for MEDLINE]
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