Article
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Human mutation - 1 Jan 2000
Loeffen J L, Smeitink J A, Trijbels J M, Janssen A J, Triepels R H, Sengers R C, van den Heuvel L P
Abstract excerpt
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. Clinical phenotypes present in this group are Leigh syndrome (n = 7), Leigh-like syndrome (n = 6), fatal infantile lactic acidosis (n = 3), neonatal...
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