Evidence map›Paper›PMID 39088149›Full record

ArticleNeurogenetics2024

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

Mahamadou Kotioumbé, 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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In one paragraph

Article in Neurogenetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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

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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. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Mahamadou KotioumbéFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali.
Alassane B MaigaFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali.
Salia BambaFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali.
Lassana CisséService de Neurologie, Centre Hospitalier Universitaire Point "G", Bamako, Mali.
Salimata DiarraFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali.
Salimata DialloService de Neurologie, Centre Hospitalier Universitaire "Gabriel Touré", Bamako, Mali.
Abdoulaye YalcouyéFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali.
Fousseyni KanéFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali.
Seybou H DialloFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali.
Dramane CoulibalyService de Médecine, Centre Hospitalier Universitaire "Le Luxembourg", Bamako, Mali.
Thomas CoulibalyFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali.
Kékouta DembéléFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali.
Boubacar MaigaService de Neurologie, Centre Hospitalier Universitaire Point "G", Bamako, Mali.
Cheick O GuintoFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali.
Guida LandouréFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali. guida@icermali.org.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

GNE-myopathy (GNE-M) is a rare autosomal recessive disorder caused by variants in the GNE gene. We report a novel variant in GNE causing GNE-M in a Malian family. A 19-year-old male patient from consanguineous marriage was seen for progressive walking difficulty. Neurological examination found predominant distal muscle weakness and atrophy, decreased tendon reflexes, predominating in lower limbs. Electroneuromyography showed an axonal neuropathy pattern. However, whole exome sequencing (WES) revealed a novel biallelic variant in GNE c.1838G > A:p.Gly613Glu, segregating with the phenotype within the family. This study highlights its diagnosis challenges in sub-Saharan Africa and broadens the genetic spectrum of this rare disease.

Indexed as

Distal MyopathiesMultienzyme ComplexesPedigreeConsanguinityExome SequencingHumansMaleMaliMutationPhenotypeYoung AdultMultienzyme ComplexesUDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinaseAfricaDistal myopathyGNEMaliNovel variant

Identifiers

PMID39088149

What OpenQuestion holds

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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.