Evidence map›Paper›PMID 41125376›Full record

ArticleInternal medicine (Tokyo, Japan)2026

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

Yohei Iguchi, Koyo Tsujikawa, Ayuka Murakami, Kodai Kume, Yuka Nakazawa, Taichi Oso, Yosuke Nishio, Koji Matsuo, Yuki Fukami, Kunihiko Araki and 3 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

13 authors.

Yohei IguchiDepartment of Neurology, Nagoya University Graduate School of Medicine, Japan.
Koyo TsujikawaDepartment of Neurology, Nagoya University Graduate School of Medicine, Japan.
Ayuka MurakamiDepartment of Neurology, Nagoya University Graduate School of Medicine, Japan.
Kodai KumeDepartment of Genetics, Research Institute of Environmental Medicine, Nagoya University, Japan.
Yuka NakazawaDepartment of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan.
Taichi OsoDepartment of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan.
Yosuke NishioDepartment of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan.
Koji MatsuoDepartment of Neurology, Nagoya University Graduate School of Medicine, Japan.
Yuki FukamiDepartment of Neurology, Nagoya University Graduate School of Medicine, Japan.
Kunihiko ArakiDepartment of Neurology, Nagoya University Graduate School of Medicine, Japan.
Tomoo OgiDepartment of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan.
Hideshi KawakamiDepartment of Genetics, Research Institute of Environmental Medicine, Nagoya University, Japan.
Masahisa KatsunoDepartment of Neurology, Nagoya University Graduate School of Medicine, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 OPDM, respectively. This family demonstrated a similar phenotype-genotype correlation dependent on the LRP12 repeat length, as in a previous study, but the case with intermediate repeats could not be classified into a single etiology, even after comprehensive electrophysiological assessments and muscle biopsy.

Indexed as

LDL-Receptor Related ProteinsMuscular DystrophiesNeuromuscular DiseasesTrinucleotide Repeat ExpansionFemaleHumansMalePedigreePhenotypeLDL-Receptor Related ProteinsCGG repeat expansionsdistal muscular atrophylong read sequencingLRP12oculopharyngodistal myopathy

Identifiers

PMID41125376
PMCPMC13349461

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.