Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease).

Muscle & nerve. Supplement - 1 Jan 1995

Raben N, Sherman J B, Adams E, Nakajima H, Argov Z, Plotz P

Abstract excerpt

Muscle phosphofructokinase (PFK-M) deficiency (glycogenosis type VII, Tarui's disease) is characterized by intolerance to vigorous exercise, often accompanied by myoglobinuria. The disease is inherited as an autosomal recessive trait. The clinical manifestations are similar to those in myophosphorylase deficiency (McArdle's disease), and the diagnosis required demonstration of the enzyme defect in muscle biopsy....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Base Sequence
Share to Jews

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to Phosphofructokinase-1

Source

Identifiers

PMID: 7603525
DOI: 10.1002/mus.880181409

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease).PMID 7603525Read ↗

Mutations in muscle phosphofructokinase gene.Semantic proximity Read ↗

Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.Semantic proximity Read ↗

Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.Semantic proximity Read ↗

A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).Semantic proximity Read ↗

Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.Semantic proximity Read ↗

Tarui disease and distal glycogenoses: clinical and genetic update.Semantic proximity Read ↗

Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site.Semantic proximity Read ↗

Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.Semantic proximity Read ↗

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).Semantic proximity Read ↗

Phosphofructokinase deficiency; past, present and future.Semantic proximity Read ↗

Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease.Semantic proximity Read ↗

Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.