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

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

27 Jul 2024

Abstract excerpt

Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG • CCG repeat expansion in four different genes were identified in OPDM individuals in Asian populations. None of these have been found in affected individuals of non-Asian...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Glycogen Storage Diseases and Myoclonus
Share to Muscle Physiology and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39068203
DOI: 10.1038/s41467-024-49950-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryPMID 39068203Read ↗

A CCG expansion in<i>ABCD3</i>causes oculopharyngodistal myopathy in individuals of European ancestrySemantic proximity Read ↗

A 5’ UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathySemantic proximity Read ↗

Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.Semantic proximity Read ↗

Oculopharyngodistal myopathy.Semantic proximity Read ↗

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal MyopathySemantic proximity Read ↗

CGG expansion in<i>NOTCH2NLC</i>is associated with oculopharyngodistal myopathy with neurological manifestationsSemantic proximity Read ↗

5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.Semantic proximity Read ↗

The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

<i>GIPC1</i>intermediate-length repeat expansion in amyotrophic lateral sclerosisSemantic proximity Read ↗

Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China.Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.Semantic proximity Read ↗

Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorderSemantic proximity Read ↗

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