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Biochemical and genetic analysis of Leigh syndrome with complex I deficiency

✍ Scribed by Dina A. Mehaney⁎; Fayza A. Hassan; Laila A. Selim; Sawsn A. Hassan; Enrico Bertini; Fillipo Santorelli; Fabiana Fattori; Randa Sabry; Reham Zeyada

Book ID
116752147
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
68 KB
Volume
11
Category
Article
ISSN
1567-7249

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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