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 Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12.

Internal medicine (Tokyo, Japan) - 15 Jun 2026

Iguchi Yohei, Tsujikawa Koyo, Murakami Ayuka, Kume Kodai, Nakazawa Yuka, Oso Taichi, Nishio Yosuke, Matsuo Koji, Fukami Yuki, Araki Kunihiko, Ogi Tomoo, Kawakami Hideshi, Katsuno Masahisa

Abstract excerpt

This study describes a family of patients with distal muscle atrophy and oculopharyngodistal myopathy (OPDM). Patients with distal muscle atrophy exhibited slowly progressive distal-predominant muscle weakness without ptosis, ophthalmoplegia, or facial weakness. Long-read sequencing confirmed the presence of intermediate and pathogenic CGG repeat expansions in LRP12 in the patients with distal muscle atrophy and...

Read the complete abstract on PubMed

Topics

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

Share to LDL-Receptor Related Proteins
Share to Muscular Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neuromuscular Diseases

Share to Pedigree

Share to Phenotype

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 41125376
DOI: 10.2169/internalmedicine.6194-25
PMCID: PMC13349461

Genes

LRP12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12.PMID 41125376Read ↗

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

Oculopharyngodistal myopathy.Semantic proximity Read ↗

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

Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status.Semantic proximity Read ↗

Expansion of 5’ UTR CGG repeat in RILPL1 is associated with oculopharyngodistal myopathySemantic proximity Read ↗

Current advance on distal myopathy geneticsSemantic proximity Read ↗

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

GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal MyopathySemantic proximity Read ↗

Complex associations of genetic/epigenetic variations of CGG repeats with patient phenotypes in oculopharyngodistal myopathySemantic proximity Read ↗

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

Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.Semantic proximity Read ↗

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