Evidence map›Paper›PMID 31991774›Full record

ArticleGenes2020

Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.

Iván Landires, Virginia Núñez-Samudio, Julián Fernandez, Cesar Sarria, Víctor Villareal, Fernando Córdoba, Giovanni Apráez-Ippolito, Samuel Martínez, Oscar M Vidal, Jorge I Vélez and 3 more

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

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 39% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Clusters of rare disorders and congenital anomalies in South America.Revista panamericana de salud publica = Pan American journal of public health · 2023
    Review
  3. Article
  4. Compound heterozygousMolecular medicine reports · 2021
    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

13 authors at 3 institutions in 2 countries.

Iván LandiresInstituto de Ciencias Médicas, Las Tablas, Los Santos, Panamá.
Virginia Núñez-SamudioInstituto de Ciencias Médicas, Las Tablas, Los Santos, Panamá.
Julián FernandezFundación José María Delgado-Paredes para Promover la Investigación en Medicina, Popayán, Colombia.
Cesar SarriaFundación José María Delgado-Paredes para Promover la Investigación en Medicina, Popayán, Colombia.
Víctor VillarealFundación José María Delgado-Paredes para Promover la Investigación en Medicina, Popayán, Colombia.
Fernando CórdobaFundación José María Delgado-Paredes para Promover la Investigación en Medicina, Popayán, Colombia.
Giovanni Apráez-IppolitoFundación José María Delgado-Paredes para Promover la Investigación en Medicina, Popayán, Colombia.
Samuel MartínezFundación José María Delgado-Paredes para Promover la Investigación en Medicina, Popayán, Colombia.
Oscar M VidalUniversidad del Norte, Barranquilla, Colombia.
Jorge I VélezUniversidad del Norte, Barranquilla, Colombia.
Mauricio Arcos-HolzingerInstituto de Ciencias Médicas, Las Tablas, Los Santos, Panamá.
Sergio LandiresCentro Integral de Radiodiagnóstico, Chitré, Herrera, Panamá.
Mauricio Arcos-BurgosGrupo de Investigación en Psiquiatría (GIPSI), Departamento de Psiquiatría, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
Universidad del Norte · COUniversidad de Antioquia · COUniversidad de Panamá · PA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Presented here are five members of a family that was ascertained from an isolated, consanguineous, indigenous Amerindian community in Colombia that was affected with calpain 3-related, limb-girdle muscular dystrophy type R1. These patients are homozygous for a unique and novel deletion of four bases (TGCC) in exon 3 of the calpain 3 gene (

Indexed as

AdolescentAdultCalpainChildExonsFamilyFemaleHomozygoteHumansMaleMuscle ProteinsMuscular DystrophiesMuscular Dystrophies, Limb-GirdleMutationPedigreePhenotypeCalpainCAPN3 protein, humanMuscle ProteinsAmerindian populationscalpain 3-related, limb-girdle muscular dystrophy type r1calpain genecalpainopathyclinical presentationdeletionEmery–Dreifuss-like syndromefounder effectnovel mutation

Identifiers

PMID31991774
PMCPMC7074289
OpenAlexW3001309844

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.