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

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

Journal of human genetics - 1 Jan 2008

Oliveira Jorge, Soares-Silva Isabel, Fokkema Ivo, Gonçalves Ana, Cabral Alexandra, Diogo Luísa, Galán Lucía, Guimarães António, Fineza Isabel, den Dunnen Johan T, Santos Rosário

Abstract excerpt

Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, congenital muscular dystrophy type 1C, and congenital muscular dystrophy type 1D are overlapping clinical entities belonging to a subgroup of the congenital muscular dystrophies (CMD), collectively designated dystroglycanopathies, in which the common underlying defect is hypoglycosylation of alfa-dystroglycan. Currently,...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to DNA

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

Share to Muscular Dystrophies

Share to N-Acetylglucosaminyltransferases

Share to Nucleic Acid Conformation

Share to RNA Precursors

Share to RNA Splicing

Source

Identifiers

PMID: 18330676
DOI: 10.1007/s10038-008-0263-5

Genes

POMGNT1
POMT1
FKRP
POMT2

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

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.PMID 18330676Read ↗

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.Semantic proximity Read ↗

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.Semantic proximity Read ↗

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.Semantic proximity Read ↗

Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.Semantic proximity Read ↗

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.Semantic proximity Read ↗

Clinical and molecular genetic analysis further delineates the phenotypic variability of POMT2-related limb girdle muscular dystrophy type R14Semantic proximity Read ↗

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disordersSemantic proximity Read ↗

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severitySemantic proximity Read ↗

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.Semantic proximity Read ↗

Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.Semantic proximity Read ↗

Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.Semantic proximity Read ↗

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.Semantic proximity Read ↗

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