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

Congenital myasthenic syndrome caused by mutations in DPAGT.

Neuromuscular disorders : NMD - 1 Mar 2015

Klein Andrea, Robb Stephanie, Rushing Elisabeth, Liu Wei-Wei, Belaya Kasiaryna, Beeson David

Abstract excerpt

Congenital myasthenic syndromes with prominent limb girdle involvement are an important differential diagnosis for congenital myopathies because of the therapeutic considerations. We present a case where accurate diagnosis was delayed for many years. Fluctuations of weakness were misinterpreted as effects of alternative treatments. Weakness was generalised, most prominently in the arms. Fatigability was more...

Read the complete abstract on PubMed

Topics

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

Share to Arm
Share to Diagnosis, Differential
Share to HEK293 Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Myasthenic Syndromes, Congenital

Share to Myotonia Congenita

Share to N-Acetylglucosaminyltransferases

Source

Identifiers

PMID: 25500013
DOI: 10.1016/j.nmd.2014.11.013

Genes

DPAGT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital myasthenic syndrome caused by mutations in DPAGT.PMID 25500013Read ↗

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.Semantic proximity Read ↗

Congenital Myasthenia Syndrome Due to a Novel DPAGT1 Gene Mutation - An Error of Glycosylation Masquerading as a Congenital Myopathy.Semantic proximity Read ↗

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.Semantic proximity Read ↗

Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.Semantic proximity Read ↗

DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Semantic proximity Read ↗

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.Semantic proximity Read ↗

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.Semantic proximity Read ↗

Congenital myasthenic syndromes: an update.Semantic proximity Read ↗

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.Semantic proximity Read ↗

Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylationSemantic proximity Read ↗

DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype.Semantic proximity Read ↗

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.Semantic proximity Read ↗

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