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Clinical and molecular findings in children with complex I deficiency

✍ Scribed by M. Bugiani; F. Invernizzi; S. Alberio; E. Briem; E. Lamantea; F. Carrara; I. Moroni; L. Farina; M. Spada; M.A. Donati; G. Uziel; M. Zeviani

Book ID
119193051
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
404 KB
Volume
1659
Category
Article
ISSN
0005-2728

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## Communicated by Johannes Zschocke We retrospectively examined clinical and biochemical characteristics of 27 patients with isolated enzymatic complex I deficiency (established in cultured skin fibroblasts) in whom common pathogenic mtDNA point mutations and major rearrangements were absent. Clin