Evidence map›Paper›PMID 38494715›Full record

ArticleInternal medicine (Tokyo, Japan)2024

A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3.

Shogo Komaki, Akatsuki Kubota, Kazuto Katsuse, Asuka Kitamura, Meiko Maeda, Takashi Matsukawa, Nobuyuki Eura, Yoshihiko Saito, Ichizo Nishino, Tatsushi Toda

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 4 institutions in 1 country.

Shogo KomakiDepartment of Neurology, the University of Tokyo, Japan.
Akatsuki KubotaDepartment of Neurology, the University of Tokyo, Japan.
Kazuto KatsuseDepartment of Neurology, the University of Tokyo, Japan.
Asuka KitamuraDepartment of Neurology, the University of Tokyo, Japan.
Meiko MaedaDepartment of Neurology, the University of Tokyo, Japan.
Takashi MatsukawaDepartment of Neurology, the University of Tokyo, Japan.
Nobuyuki EuraDepartment of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan.
Yoshihiko SaitoDepartment of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan.
Ichizo NishinoDepartment of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan.
Tatsushi TodaDepartment of Neurology, the University of Tokyo, Japan.
University of Tokyo Hospital · JPNational Center of Neurology and Psychiatry · JPThe University of Tokyo · JPTohoku University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Calpainopathy is primarily an autosomal recessive inherited myopathy; however, dominantly inherited cases with a pathogenic variant of c.1333G>A have been reported. A 13-year-old Japanese girl presented with toe walking and elevated serum creatine kinase levels. Genetic panel testing revealed compound heterozygosity for c.1333G>A and a novel variant of c.1331C>T in CAPN3, leading to a diagnosis of calpainopathy. A genetic analysis of her parents revealed the possibility that c.1333G>A was de novo. In this patient, the onset age was earlier than that of the reported autosomal dominant cases, suggesting the influence of the novel variant in the contralateral allele.

Indexed as

CalpainHeterozygoteMuscle ProteinsMutationAdolescentFemaleHumansMuscular Dystrophies, Limb-GirdleCalpainCAPN3 protein, humanMuscle ProteinscalpainopathyCAPN3LGMDR1limb-girdle muscular dystrophytoe walking

Identifiers

PMID38494715
PMCPMC11637793
OpenAlexW4392891854

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.