Evidence map›Paper›PMID 41465131›Full record

ArticleGenes2025

Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects.

Rena Zinchenko, Inna Tebieva, Aysylu Murtazina, Sofya Ionova, Alisa Zhmurova-Kriventsova, Olga Shchagina, Elena Zinina, Yulia Gabisova, Alana Khokhova, Marina Tokazova and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

16 authors.

Rena ZinchenkoResearch Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia.ORCID 0000-0003-3586-3458
Inna TebievaFederal State Budgetary Educational Institution of Higher Professional Education "North-Ossetian State Medical Academy" of the Ministry of Health of the Russian Federation, Vladikavkaz 362019, Russia.ORCID 0000-0003-3947-9242
Aysylu MurtazinaResearch Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia.ORCID 0000-0001-7023-7378
Sofya IonovaResearch Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia.ORCID 0000-0002-1326-8706
Alisa Zhmurova-KriventsovaResearch Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia.ORCID 0000-0002-8257-2680
Olga ShchaginaResearch Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia.ORCID 0000-0003-4905-1303
Elena ZininaResearch Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia.ORCID 0000-0001-5017-7996
Yulia GabisovaRepublican Children's Clinical Hospital of the Republic of North Ossetia-Alania, Republic of North Ossetia-Alania, St. Pushkinskaya 40, Vladikavkaz 362007, Russia.
Alana KhokhovaFederal State Budgetary Educational Institution of Higher Professional Education "North-Ossetian State Medical Academy" of the Ministry of Health of the Russian Federation, Vladikavkaz 362019, Russia.ORCID 0000-0002-8623-6983
Marina TokazovaRepublican Children's Clinical Hospital of the Republic of North Ossetia-Alania, Republic of North Ossetia-Alania, St. Pushkinskaya 40, Vladikavkaz 362007, Russia.ORCID 0009-0009-7042-5032
Murat IkaevRepublican Children's Clinical Hospital of the Republic of North Ossetia-Alania, Republic of North Ossetia-Alania, St. Pushkinskaya 40, Vladikavkaz 362007, Russia.ORCID 0009-0006-9948-7374
Oleg RemizovFederal State Budgetary Educational Institution of Higher Professional Education "North-Ossetian State Medical Academy" of the Ministry of Health of the Russian Federation, Vladikavkaz 362019, Russia.ORCID 0000-0003-4175-5365
Sofia PopovichFederal State Autonomous Institution "National Medical Research Center for Children's Health" of the Ministry of Health of the Russian Federation, Lomonosovsky Prospect, Moscow 119991, Russia.ORCID 0000-0002-9697-500X
Ludmila KuzenkovaFederal State Autonomous Institution "National Medical Research Center for Children's Health" of the Ministry of Health of the Russian Federation, Lomonosovsky Prospect, Moscow 119991, Russia.ORCID 0000-0002-9562-3774
Andrey MarakhonovResearch Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia.ORCID 0000-0002-0972-5118
Sergey KutsevResearch Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia.ORCID 0000-0002-3133-8018

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesThe article presents data on Duchenne muscular dystrophy (DMD) in the Republic of North Ossetia-Alania (RNOA), describing the population characteristics of the disease among children in RNOA (2006-2023).

methodsThe number of newborns was 172,115, with 86,057 boys from 2006 to 2023. During the reporting period, 19 families (23 patients, including 22 boys) were identified. The molecular and genetic characteristics of the patients were analyzed throughout the entire observation period, which began in 1998.

resultsThe prevalence of the disease was 1:3912 among newborn boys (95%CI: 1:2584-1:6242), which is slightly higher than in other regions of the Russian Federation (RF) and most countries around the world. The spectrum of

conclusionsThe heterogeneity of mutation spectrum across different populations underscores the influence of ethnic background. Consequently, this study highlights the importance of population-specific studies for improving DMD care.

Indexed as

DystrophinMuscular Dystrophy, DuchenneAdolescentChildChild, PreschoolFemaleHumansInfantInfant, NewbornMaleMutationPrevalenceRussiaDMD protein, humanDystrophinDuchenne muscular dystrophygene replacement therapytargeted therapy

Identifiers

PMID41465131
PMCPMC12732966

What OpenQuestion holds

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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.