Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

doi:10.1172/JCI2091

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Article

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

The Journal of clinical investigation - 15 Sept 1998

Ibdah J A, Tein I, Dionisi-Vici C, Bennett M J, IJlst L, Gibson B, Wanders R J, Strauss A W

Abstract excerpt

Human mitochondrial trifunctional protein (TFP) is a heterooctamer of four alpha- and four beta-subunits that catalyzes three steps in the beta-oxidation spiral of long-chain fatty acids. TFP deficiency causes a Reye-like syndrome, cardiomyopathy, or sudden, unexpected death. We delineated the mo...

Topics

Adolescent
Child
Chronic Disease
Exons
Fatty Acids
Genotype
Hereditary Sensory and Motor Neuropathy
Heterozygote
Homozygote
Humans
Male
Mitochondrial Myopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mitochondrial Trifunctional Protein

Multienzyme Complexes

Mutation

Pedigree

Phenotype

Polymorphism, Single-Stranded Conformational

Source

Open in PubMed Open full text

Identifiers

PMID: 9739053
DOI: 10.1172/JCI2091
PMCID: PMC509102

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9739053-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.PMID 9739053Read ↗

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