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

Update on new muscle glycogenosis.

Current opinion in neurology - 1 Oct 2017

Laforêt Pascal, Malfatti Edoardo, Vissing John

Abstract excerpt

PURPOSE OF REVIEW: The field of muscle glycogenoses has progressed in recent years by the identification of new disorders, and by reaching a better understanding of pathophysiology of the disorders and the physiology of glycogen metabolism. RECENT FINDINGS: In this review, we describe the clinical and pathological features of the three most recently described muscle glycogenoses caused by recessive mutations in...

Read the complete abstract on PubMed

Topics

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

Share to Glucosyltransferases
Share to Glycogen
Share to Glycogen Storage Disease

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

Share to Glycoproteins

Share to Muscular Diseases

Share to Phosphoglucomutase

Share to Transcription Factors

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 28737584
DOI: 10.1097/WCO.0000000000000484

Genes

GYG1
RBCK1
PGM1

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

Update on new muscle glycogenosis.PMID 28737584Read ↗

Glycogen Storage Diseases: A Brief Review and Update on Clinical Features, Genetic Abnormalities, Pathologic Features, and TreatmentSemantic proximity Read ↗

Glycogen pathways in disease: new developments in a classical field of medical geneticsSemantic proximity Read ↗

Biochemistry and molecular genetics of human glycogenoses: an overview.Semantic proximity Read ↗

<i>GYG1</i> gene mutations in a family with polyglucosan body myopathySemantic proximity Read ↗

[Hepatic glycogen storage diseases: Symptoms, management and associated mutations].Semantic proximity Read ↗

A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy.Semantic proximity Read ↗

Non-muscle involvement in late-onset glycogenosis II.Semantic proximity Read ↗

Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapiesSemantic proximity Read ↗

International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and managementSemantic proximity Read ↗

A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.Semantic proximity Read ↗

Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.Semantic proximity Read ↗

Proteomic profiling of polyglucosan bodies associated with glycogenin‐1 deficiency in skeletal muscleSemantic proximity Read ↗

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