Evidence map›Paper›PMID 38496429›Full record

ArticleResearch square2024

A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.

Mahamadou Kotioumbe, Alassane B Maiga, Salia Bamba, Lassana Cissé, Salimata Diarra, Salimata Diallo, Abdoulaye Yalcouyé, Fousseyni Kané, Seybou H Diallo, Dramane Coulibaly and 5 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Research square, 2024. 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, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors at 3 institutions in 3 countries.

Mahamadou KotioumbeFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako.
Alassane B MaigaFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako.
Salia BambaFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako.
Lassana CisséService de Neurologie, Centre Hospitalier Universitaire du Point "G", Bamako.
Salimata DiarraFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako.
Salimata DialloService de Neurologie, Centre Hospitalier Universitaire "Gabriel Touré", Bamako.
Abdoulaye YalcouyéFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako.
Fousseyni KanéFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako.
Seybou H DialloFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako.
Dramane CoulibalyService de Médecine, Centre Hospitalier Universitaire "Le Luxembourg", Bamako.
Thomas CoulibalyFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako.
Kékouta DembéléFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako.
Boubacar MaigaService de Neurologie, Centre Hospitalier Universitaire du Point "G", Bamako.
Cheick O GuintoFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako.
Guida LandouréFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako.
Université des Sciences, des Techniques et des Technologies de Bamako · MLCentre Hospitalier Universitaire de Tours · FRCentre Hospitalier de Luxembourg · LU

Funding

Clinical and genetic studies of hereditary neurological disorders in MaliU01HG007044 · NHGRI · UNIV OF SCIENCES, TECH & TECH OF BAMAKO · PI LANDOURE, GUIDA · 2013 to 2022
$3.1M
Studies Of Hereditary Neurological Disease: Disease Gene IdentificationZ01NS002974 · NINDS · NEUROLOGICAL DISORDERS AND STROKE · PI FISCHBECK, KENNETH H · 1999 to 2008
$2.4M
Intramural NIH HHS Z01 NS002974NHGRI NIH HHS U01 HG007044
6 · The paper itself

Abstract

Background: GNE myopathy (GM) is a rare autosomal recessive disorder caused by variants in the Case presentation: A 19-year-old male patient from a consanguineous family of Bambara ethnicity was seen for progressive walking difficulty and frequent falls. Neurological examination found distalmuscle weakness and atrophy and reduced tendon reflexes in four limbs. Electroneuromyography (ENMG) showed an axonal neuropathy pattern with reduced distal motor amplitudes. Charcot-Marie-Tooth (CMT) gene panel testing (Medical Neurogenetics LLC, Atlanta, GA) was negative. However, whole exome sequencing (WES) revealed a novel biallelic variant in Conclusion: This study reports a novel variant in the

Indexed as

AfricaDistal myopathyGNEMalinovel variant

Identifiers

PMID38496429
PMCPMC10942567
OpenAlexW4392543733

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.