Evidence map›Paper›PMID 41290347›Full record

ArticleNeurosciences (Riyadh, Saudi Arabia)2025

Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity.

Aiman S Alhazmi, Areej A Alhareeri, Ali S Alhawas, Essam W Jameel, Faisal S Aleisa, Muteb M Alqahtani, Mutrik J Almughni, Mohammed A Almuqbil

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurosciences (Riyadh, Saudi Arabia), 2025. 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

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

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

8 authors.

Aiman S AlhazmiFrom the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia.ORCID https://orcid.org/0009-0006-2174-9792
Areej A AlhareeriFrom the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia.
Ali S AlhawasFrom the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia.
Essam W JameelFrom the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia.
Faisal S AleisaFrom the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia.
Muteb M AlqahtaniFrom the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia.
Mutrik J AlmughniFrom the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia.
Mohammed A AlmuqbilFrom the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo identify the genetic landscape of CMT in Saudi Arabia.

methodsThis retrospective cohort study included 43 patients diagnosed with CMT between 2016 and 2022 at National Guard Health Affairs hospitals in three cities. All CMT cases with a genetic diagnosis were included.

resultsGenetic testing was conducted in 23 out of 43 CMT cases (53%), and clinically relevant genetic variants associated with CMT were identified in 17 of 23 patients (73.9%). The most common genes in the cohort were

conclusionThis study reveals a distinct genetic profile of CMT in the Saudi population, with a higher prevalence of autosomal recessive forms of the disease compared to other populations. The findings highlight the importance of incorporating genetic testing into routine clinical practice, particularly in populations with high consanguinity rates.

Indexed as

Charcot-Marie-Tooth DiseaseConsanguinityGenetic ProfileAdolescentAdultChildFemaleGenetic TestingHumansMaleMiddle AgedMutationRetrospective StudiesSaudi ArabiaYoung Adult

Identifiers

PMID41290347
PMCPMC12676911

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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.