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

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.

Muscle & nerve. Supplement - 1 Jan 1995

Tsujino S, Shanske S, DiMauro S

Abstract excerpt

Phosphoglycerate kinase (PGK; EC 2.7.2.3) is a glycolytic enzyme encoded by a single gene on the X chromosome and ubiquitously expressed. Hereditary PGK deficiency can cause hemolytic anemia, central nervous system dysfunction, and/or myopathy characterized by exercise intolerance, cramps, and myoglobinuria. So far, 20 PGK variants with reduced PGK activity have been identified, 8 of them in patients with...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Molecular Sequence Data
Share to Muscles

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

Share to Mutation

Share to Phosphoglycerate Kinase

Source

Identifiers

PMID: 7603527
DOI: 10.1002/mus.880181411

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

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.PMID 7603527Read ↗

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.Semantic proximity Read ↗

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.Semantic proximity Read ↗

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.Semantic proximity Read ↗

Molecular heterogeneity of pyruvate kinase deficiency.Semantic proximity Read ↗

Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.Semantic proximity Read ↗

Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency.Semantic proximity Read ↗

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.Semantic proximity Read ↗

Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency.Semantic proximity Read ↗

Red cell glycolytic enzyme disorders caused by mutations: an update.Semantic proximity Read ↗

Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.Semantic proximity Read ↗

Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.Semantic proximity Read ↗

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective studySemantic proximity Read ↗

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