Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns.

Samira Nmer, Amina Ameli, Said Trhanint, Sana Chaouki, Laila Bouguenouch, Karim Ouldim

Abstract readCase Reports

In one paragraph

Article in Cureus, 2024. 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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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

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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

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

6 authors.

Samira NmerBiomedical and Translational Research Laboratory, Faculty of Medicine, Pharmacy and Dentistry, Sidi Mohamed Ben Abdellah University, Fez, MAR.

Amina AmeliMedical Genetics and Oncogenetics Unit, Central Laboratory of Medical Analyses, Hassan II University Hospital, Fez, MAR.

Said TrhanintMedical Genetics and Oncogenetics Unit, Central Laboratory of Medical Analyses, Hassan II University Hospital, Fez, MAR.

Sana ChaoukiPediatric Emergency, Hassan II University Hospital, Fez, MAR.

Laila BouguenouchBiomedical and Translational Research Laboratory, Faculty of Medicine, Pharmacy and Dentistry, Sidi Mohamed Ben Abdellah University, Fez, MAR.

Karim OuldimBiomedical and Translational Research Laboratory, Faculty of Medicine, Pharmacy and Dentistry, Sidi Mohamed Ben Abdellah University, Fez, MAR.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

LAMA2-related muscular dystrophies (LAMA2-RDs) constitute the most prevalent subtype of congenital muscular dystrophies (CMDs). The clinical spectrum of LAMA2-RDs exhibits considerable diversity, particularly in motor development and disease progression. Phenotypic variability ranges from severe, early-onset presentation, known as merosin-deficient CMD type 1A, to milder, late-onset presentations, including limb-girdle muscular dystrophy-like phenotype. In this study, whole exome sequencing (WES) was applied to a family with a single proband affected by severe muscular dystrophy. The identified causative mutation was a biallelic splice-site mutation in intron 58 of the

Indexed as

lama2-related muscular dystrophieslaminin-α2lgmd-like phenotypemdc1asplice-site mutationswhole exome sequencing

Identifiers

PMID38962616

DOI10.7759/cureus.61599

PMCPMC11221619

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