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

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

Neuromuscular disorders : NMD - 1 Apr 2012

Musumeci Olimpia, Bruno Claudio, Mongini Tiziana, Rodolico Carmelo, Aguennouz M'hammed, Barca Emanuele, Amati Angela, Cassandrini Denise, Serlenga Luigi, Vita Giuseppe, Toscano Antonio

Abstract excerpt

Muscle phosphofructokinase (PFKM) deficiency, a rare disorder of glycogen metabolism also known as glycogen storage disease type VII (GSDVII), is characterized by exercise intolerance, myalgias, cramps and episodic myoglobinuria associated with compensated hemolytic anaemia and hyperuricemia. We studied five patients with PFKM deficiency coming from different Italian regions. All probands showed exercise...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cardiomyopathy, Hypertrophic

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

Share to Genetic Association Studies

Share to Hyperuricemia

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 22133655
DOI: 10.1016/j.nmd.2011.10.022

Genes

PFKM

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

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).PMID 22133655Read ↗

Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VIISemantic proximity Read ↗

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

Mutations in muscle phosphofructokinase gene.Semantic proximity Read ↗

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

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

Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene.Semantic proximity Read ↗

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.Semantic proximity Read ↗

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

Genes and exercise intolerance: insights from McArdle disease.Semantic proximity Read ↗

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

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

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

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