Evidence map›Paper›PMID 39215466›Full record

ArticleAnnals of clinical and translational neurology2024

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova and 20 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 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

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

5 · Who and what money

Authors and funding

30 authors.

Shruthi MohanDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
Shannon McNultyDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
Courtney ThaxtonDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
Marwa ElnagheebDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
Emma OwensDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
May FlowersDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
Teagan NunneryDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
Autumn SelfDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
Brooke PalusDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
Svetlana GorokhovaAix Marseille Univ, INSERM, MMG, U 1251, Marseille, France.ORCID 0000-0001-6870-4061
April KennedyDivision of Clinical Pharmacology and Toxicology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Zhiyv NiuDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0001-6068-5505
Mridul JohariHarry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
Alassane Baneye MaigaDepartment of Medicine, University of Sciences, Techniques and Technologies of Bamako, Bamako, Mali.
Kelly MacalaladDepartment of Neurology, Washington University School of Medicine in St. Louis, St Louis, Missouri, USA.
Amanda R ClauseDepartment of Neurology, Washington University School of Medicine in St. Louis, St Louis, Missouri, USA.ORCID 0000-0002-2078-7280
Jacques S BeckmannDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Lucas BronickiDepartment of clinical genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Sandra T CooperKids Neuroscience Centre, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Vijay S GaneshCenter for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Peter B KangGreg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.ORCID 0000-0002-4270-7325
Akanchha KesariIllumina Inc, San Diego, California, USA.
Monkol LekDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Jennifer LevyCoalition to Cure Calpain 3, Westport, Connecticut, USA.
Laura RufibachJain Foundation, Seattle, Washington, USA.
Marco SavareseFolkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-2591-244X
Melissa J SpencerDepartment of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Volker StraubJohn Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK.
Giorgio TascaJohn Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK.ORCID 0000-0003-0849-9144
Conrad C WeihlDepartment of Neurology, Washington University School of Medicine in St. Louis, St Louis, Missouri, USA.

Funding

The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0M
Chaperone Dysfunction in Myopathy: Connecting Yeast Genetics with Mouse ModelsR01AR068797 · NIAMS · WASHINGTON UNIVERSITY · PI TRUE-KROB, HEATHER L, WEIHL, CONRAD C · 2015 to 2025
$6.1M
Clinical and Translational Studies in Muscle DiseaseK24AR073317 · NIAMS · WASHINGTON UNIVERSITY · PI CONRAD C WEIHL · 2018 to 2026
$1.6M
NHGRI NIH HHS U24 HG009650NHGRI NIH HHS U24HG009650NIAMS NIH HHS K24 AR073317NIAMS NIH HHS R01 AR068797
6 · The paper itself

Abstract

objectiveLimb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD.

methodsThe ClinGen Muscular Dystrophies and Myopathies gene curation expert panel (MDM GCEP, formerly Limb Girdle Muscular Dystrophy GCEP) convened to evaluate the strength of evidence supporting gene-disease relationships (GDR) using the ClinGen gene-disease clinical validity framework to evaluate 31 genes implicated in LGMD.

resultsThe GDR was exclusively LGMD for 17 genes, whereas an additional 14 genes were related to a broader phenotype encompassing congenital weakness. Four genes (CAPN3, COL6A1, COL6A2, and COL6A3) were split into two separate disease entities, based on each displaying both dominant and recessive inheritance patterns, resulting in curation of 35 GDRs. Of these, 30 (86%) were classified as definitive, 4 (11%) as moderate, and 1 (3%) as limited. Two genes, POMGNT1 and DAG1, though definitively related to myopathy, currently have insufficient evidence to support a relationship specifically with LGMD.

interpretationThe expert-reviewed assertions on the clinical validity of genes implicated in LGMDs form an invaluable resource for clinicians and molecular geneticists. We encourage the global neuromuscular community to publish case-level data that help clarify disputed or novel LGMD associations.

Indexed as

Muscular Dystrophies, Limb-GirdleCalpainCollagen Type VIData CurationHumansMuscle ProteinsPhenotypeCalpainCAPN3 protein, humanCol6a1 protein, humanCOL6A2 protein, humanCOL6A3 protein, humanCollagen Type VIMuscle Proteins

Identifiers

PMID39215466
PMCPMC11537137

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.