Evidence map›Paper›PMID 40491337›Full record

ArticleJournal of neuromuscular diseases2025

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.

Justyne E Ross, May Flowers, Shannon McNulty, Mayher Patel, Hui Yang, Brooke Palus, Marwa Abdelmoneim Elnagheeb, Lucy Eng, Emma Owens, Alan H Beggs and 21 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

31 authors.

Justyne E RossDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-7437-8060
May FlowersDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Shannon McNultyDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-0566-4629
Mayher PatelThe Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Hui YangGeneDx, Gaithersburg, MD, USA.
Brooke PalusDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Marwa Abdelmoneim ElnagheebDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Lucy EngDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0009-0007-6180-2639
Emma OwensDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Alan H BeggsDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-8818-0568
Enrico BertiniUnit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID 0000-0001-9276-4590
Adele D'AmicoUnit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, NIH, National Institute of Neurological Disorders, Bethesda, USA.
James DowlingDivision of Neurology, Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, Canada.
Fabiana FattoriUnit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Ana FerreiroBasic and Translational Myology Laboratory, Université de Paris, Paris, France.
Casie A GenettiDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-4173-9947
Hernan GonorazkyBasic and Translational Myology Laboratory, Université de Paris, Paris, France.
Monkol LekDepartment of Genetics, Yale School of Medicine, New Haven, USA.
Amanda LindyGeneDx, Gaithersburg, MD, USA.
Livija MedneDepartment of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, USA.ORCID 0000-0002-3836-4294
Francesco MuntoniDubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK.ORCID 0000-0002-9102-5232
Sander PajusaluDepartment of Genetics, Yale School of Medicine, New Haven, USA.
Katarina PelinMolecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-7040-7266
John RenduUniv. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.
Anna SarkozyDubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK.
Matteo VattaLabcorp Genetics Inc. (formerly Invitae Corp.), San Francisco, CA, USA.ORCID 0000-0003-0962-8163
Tom WinderLabcorp Genetics Inc. (formerly Invitae Corp.), San Francisco, CA, USA.
Grace YoonDivisions of Neurology and Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.ORCID 0000-0002-0415-4416
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, NIH, National Institute of Neurological Disorders, Bethesda, USA.
Ozge Ceyhan-BirsoyDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCongenital myopathies are a group of neuromuscular disorders that typically present at birth or early childhood with hypotonia and non-progressive or slowly progressive muscle weakness. They are classically subclassified by characteristic structural changes and histopathological findings in skeletal muscle. Variants in over 40 genes have been described to date in patients with various forms of congenital myopathy with overlapping phenotypic and histological features, which poses a challenge for laboratories and clinicians in interpreting genetic findings.

objectiveThe purpose of this study was to evaluate the evidence supporting each gene-disease relationship and provide an expert-reviewed classification for the clinical validity of genes involved in congenital myopathies.

methodsThe ClinGen Neurological Disorders Clinical Domain Working Group assembled the Congenital Myopathies Gene Curation Expert Panel (CongenMyopathy-GCEP), a group of clinicians and geneticists with expertise in congenital myopathies tasked to perform evidence-based curation of 50 gene-disease relationships using the ClinGen semiquantitative framework to assign clinical validity.

resultsOur curation effort resulted in 35 (70%) Definitive, eight (16%) Moderate, six (12%) Limited, and one (2%) Disputed disease relationship classifications. The summary of each curation is made publicly available on the ClinGen website.

conclusionsExpert-reviewed assignment of gene-disease relationships by the CongenMyopathy-GCEP facilitates accurate molecular diagnoses for congenital myopathies and can allow genetic testing to focus on genes with a validated role in disease.

Indexed as

Myopathies, Structural, CongenitalMyotonia CongenitaHumanscongenital myopathyGeneticsgenetic testingneuromuscular disease

Identifiers

PMID40491337
PMCPMC13142831

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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.