Evidence map›Paper›PMID 38812636›Full record

ArticleTurkish journal of medical sciences2024

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.

İzem Olcay Şahin, Emine Karataş, Mikail Demir, Büşra Tan, Hüseyin Per, Yusuf Özkul, Munis Dündar

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In one paragraph

Article in Turkish journal of medical sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors.

İzem Olcay ŞahinDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkiye.ORCID https://orcid.org/0000-0002-2105-4767
Emine KarataşDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkiye.ORCID https://orcid.org/0000-0002-8279-8305
Mikail DemirDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkiye.ORCID https://orcid.org/0000-0001-8411-5179
Büşra TanDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkiye.ORCID https://orcid.org/0000-0001-6072-5570
Hüseyin PerDepartment of Pediatric Neurology, Faculty of Medicine, Children's Hospital, Erciyes University, Kayseri, Turkiye.ORCID https://orcid.org/0000-0001-9904-6479
Yusuf ÖzkulDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkiye.ORCID https://orcid.org/0000-0002-4212-5763
Munis DündarDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkiye.ORCID https://orcid.org/0000-0003-0969-4611

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and aim: Calpainopathy, also known as limb-girdle muscular dystrophy recessive type 1, is a progressive muscle disorder that impacts the muscles around the hips and shoulders. The disease is caused by defects in the Materials and methods: Molecular analyses were performed using the next-generation sequencing (NGS) method. Results: In this retrospective study, the cohort consisted of seven patients exhibiting the Conclusion: Therefore, the NGS method proves highly effective in diagnosing rare diseases characterized by clinical heterogeneity. Assessing variants based on ethnicity holds significance in the development of precise therapies.

Indexed as

CalpainMuscle ProteinsMuscular Dystrophies, Limb-GirdleAdolescentAdultChildCohort StudiesFemaleHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMutationRetrospective StudiesTurkeyYoung AdultCalpainCAPN3 protein, humanMuscle ProteinsLGMD2ALGMDD1LGMDR1NGSvariants

Identifiers

PMID38812636
PMCPMC11031166

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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.