Evidence map›Paper›PMID 38406381›Full record

ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2023

Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.

Ikhlass Belhassen, Rita Menassa, Salma Sakka, Laurence Michel-Calemard, Nathalie Streichenberger, Dorra Ben Ayed, Nadia Bouattour, Mariem Dammak, Chokri Mhiri

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PubMed Full text at PMC Publisher
In one paragraph

Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2023. 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
0.2field-weighted citation impact, top 39% of its field
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

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

9 authors at 2 institutions in 2 countries.

Ikhlass BelhassenLaboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Diseases (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Tunisia.
Rita MenassaService de Biochimie et Biologie Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, France.
Salma SakkaLaboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Diseases (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Tunisia.
Laurence Michel-CalemardService de Biochimie et Biologie Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, France.
Nathalie StreichenbergerCentre de Pathologie et Neuropathologie Est, Hospices Civils de Lyon; Université Claude Bernard Lyon1, Lyon, France.
Dorra Ben AyedLaboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Diseases (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Tunisia.
Nadia BouattourLaboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Diseases (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Tunisia.
Mariem DammakLaboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Diseases (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Tunisia.
Chokri MhiriLaboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Diseases (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Tunisia.
Hopital Universitaire Habib Bourguiba · TNHospices Civils de Lyon · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fukutin-related protein (FKRP) mutations cause a broad spectrum of muscular dystrophies, from a relatively mild limb-girdle muscular dystrophy type 9 (LGMDR9) to severe congenital muscular dystrophy (CMD). This study aims to report two siblings belonging to a non-consanguineous Tunisian family harboring a novel compound heterozygous

Indexed as

Muscular DystrophiesMuscular Dystrophies, Limb-GirdleHumansMuscle, SkeletalMutationPentosyltransferasesPhenotypeProteinsFKRP protein, humanPentosyltransferasesProteinsDystroglycanopathyFKRPLGMDR9limb girdle muscular dystrophyα-Dystroglycan

Identifiers

PMID38406381
PMCPMC10883327
OpenAlexW4394765912

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.