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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 gro...

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Identifiers

PMID: 10649489
DOI: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10649489-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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