Evidence map›Paper›PMID 42343573›Full record

ArticleJournal of neuromuscular diseases2026

Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies.

Dmitrii Subbotin, Artem Borovikov, Anna Kuchina, Inna Sharkova, Anastasia Vlasenko, Galina Rudenskaya, Sergey Nikitin, Olga Gilvanova, Daniil Degterev, Dmitry Druzhinin and 10 more

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In one paragraph

Article in Journal of neuromuscular diseases, 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

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

20 authors.

Dmitrii SubbotinResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0009-0007-9862-0273
Artem BorovikovResearch Centre for Medical Genetics, Moscow, Russia.
Anna KuchinaResearch Centre for Medical Genetics, Moscow, Russia.
Inna SharkovaResearch Centre for Medical Genetics, Moscow, Russia.
Anastasia VlasenkoResearch Centre for Medical Genetics, Moscow, Russia.
Galina RudenskayaResearch Centre for Medical Genetics, Moscow, Russia.
Sergey NikitinResearch Centre for Medical Genetics, Moscow, Russia.ORCID 0000-0003-3292-2758
Olga GilvanovaCenter for Neuromuscular Pathology, Loginov Moscow Clinical Scientific Center, Moscow, Russia.
Daniil DegterevCenter for Neuromuscular Pathology, Loginov Moscow Clinical Scientific Center, Moscow, Russia.
Dmitry DruzhininDepartment of Neurology, Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Moscow, Russia.
Evgenia DruzhininaDepartment of Neurology Neurosurgery and Medical Genetics Department named after academician L.O. Badalian, Faculty of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow, Russia.
Daria GrishinaCenter for Peripheral Nervous System Diseases, Russian Сenter of Neurology and Neurosciences, Moscow, Russia.
Elena DadaliResearch Centre for Medical Genetics, Moscow, Russia.
Andrey MarakhonovResearch Centre for Medical Genetics, Moscow, Russia.
Polina ChausovaResearch Centre for Medical Genetics, Moscow, Russia.
Sergei FomenkoBiotech Campus LLC, Moscow, Russia.ORCID 0000-0002-0368-3447
Oxana RyzhkovaResearch Centre for Medical Genetics, Moscow, Russia.
Olga ShchaginaResearch Centre for Medical Genetics, Moscow, Russia.
Sergey KutsevResearch Centre for Medical Genetics, Moscow, Russia.
Aysylu MurtazinaResearch Centre for Medical Genetics, Moscow, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BackgroundDistal myopathies (DMs) comprise a heterogeneous group of hereditary muscle diseases characterized by predominant distal muscle weakness and atrophy overlapping with hereditary neuropathies, leading to diagnostic delays or misclassification.ResultsWe conducted a retrospective analysis of 125 patients from 103 families with DMs revealed at a federal genetics referral center in Russia from 2010 to 2025, representing the largest Russian DM cohort. Causative variants were identified in 20 genes, most commonly in the

Indexed as

distal myopathyEMGhigh-amplitude MUPsmuscle MRIneurogenic MUPsneuromuscular disorders

Identifiers

PMID42343573
PMCPMC13438692

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