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 of the myasthenic syndrome arising from mutations in GMPPB.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2016

Rodríguez Cruz Pedro M, Belaya Katsiaryna, Basiri Keivan, Sedghi Maryam, Farrugia Maria Elena, Holton Janice L, Liu Wei Wei, Maxwell Susan, Petty Richard, Walls Timothy J, Kennett Robin, Pitt Matthew, Sarkozy Anna, Parton Matt, Lochmüller Hanns, Muntoni Francesco, Palace Jacqueline, Beeson David

Abstract excerpt

BACKGROUND: Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the integrity of neuromuscular transmission. METHODS: Review of case notes of patients with mutations in GMPPB to identify the associated clinical, neurophysiological, pathological and laboratory features. In addition, serum creatine kinase (CK) levels within the...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cognitive Dysfunction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Creatine Kinase

Share to Dystroglycans

Share to Glycosylation

Share to Myasthenic Syndromes, Congenital

Share to Nucleotidyltransferases

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 27147698
DOI: 10.1136/jnnp-2016-313163
PMCID: PMC6047737

Genes

GMPPB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.PMID 27147698Read ↗

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

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

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.Semantic proximity Read ↗

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.Semantic proximity Read ↗

Expanding the phenotype of GMPPB mutations.Semantic proximity Read ↗

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.Semantic proximity Read ↗

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.Semantic proximity Read ↗

[Congenital myasthenic syndromes in adulthood : Challenging, rare but treatable].Semantic proximity Read ↗

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.Semantic proximity Read ↗

Congenital myasthenic syndromes.Semantic proximity Read ↗

Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.Semantic proximity Read ↗

Congenital myasthenic syndrome caused by mutations in DPAGT.Semantic proximity Read ↗

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