Evidence map›Paper›PMID 32948566›Full record

ReviewBMJ open2020

Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America.

Joshua D Green, Richard J Barohn, Emanuela Bartoccion, Michael Benatar, Derrick Blackmore, Vinay Chaudhry, Manisha Chopra, Andrea Corse, Mazen M Dimachkie, Amelia Evoli and 30 more

Registry-linked trialOpen access · goldAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in BMJ open, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06259071 (Genome Wide Association Study of Patients With Muscle Specific Kinase Myasthenia Gravis), which is not on this map. Cited by 11 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 4 pooled it
1.2field-weighted citation impact, top 17% 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.

NCT06259071 recruitingnot on this mapstarted 2023, after this paper: background citation

Genome Wide Association Study of Patients With Muscle Specific Kinase Myasthenia Gravis

TypeobservationalSponsorGeorge Washington UniversityRan2023 to 2027Enrolled1,000ConditionsMyasthenia Gravis, MuSK MG, MuSK Myasthenia Gravis
3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 4 syntheses or guidelines pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Myasthenia gravis and five autoimmune diseases: a bidirectional Mendelian randomization study.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024
    Pooled it
  4. Pooled it
  5. Trial
  6. Myasthenia gravis: the future is here.The Journal of clinical investigation · 2024
    Review
  7. Review
  8. Article
  9. In sickness and in health: when myasthenia gravis is a conjugal matter.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Article
  10. Article
  11. 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

40 authors at 20 institutions in 3 countries.

Joshua D GreenNeuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging Intramural Research Program, Bethesda, Maryland, USA.ORCID 0000-0003-2676-6031
Richard J BarohnDepartment of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA.
Emanuela BartoccionInstitute of General Pathology, Catholic University, Fondazione Policlinico Universitario "A. Gemelli"-I.R.C.C.S, Rome, Italy.
Michael BenatarDepartment of Neurology, University of Miami, Coral Gables, Florida, USA.
Derrick BlackmoreDepartment of Medicine, University of Alberta Hospital, Edmonton, Alberta, Canada.
Vinay ChaudhryDepartment of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Manisha ChopraDepartment of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Andrea CorseDepartment of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Mazen M DimachkieDepartment of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA.
Amelia EvoliIstituto di Neurologia, Policlinico A. Gemelli IRCSS, Università Cattolica del S. Cuore, Rome, Italy.
Julaine FlorenceDepartment of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA.
Miriam FreimerDepartment of Neurology, Ohio State University Medical Center, Columbus, Ohio, USA.
James F HowardDepartment of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Theresa JiwaDivision of Neurology, University of British Columbia, Vancouver, British Columbia, Canada.
Henry J KaminskiDepartment of Neurology, George Washington University, Washington, DC, USA.
John T KisselDepartment of Neurology, Ohio State University Medical Center, Columbus, Ohio, USA.
Wilma J KoopmanDepartment of Clinical Neurosciences, London Health Sciences Centre, London, Ontario, Canada.
Bernadette LipscombDepartment of Neurology, Duke University Medical Center, Durham, North Carolina, USA.
Michelanglo MaestriDepartment of Neuroscience, University of Pisa, Pisa, Italy.
Mariapaola MarinoInstitute of General Pathology, Catholic University, Fondazione Policlinico Universitario "A. Gemelli"-I.R.C.C.S, Rome, Italy.
Janice M MasseyDepartment of Neurology, Duke University Medical Center, Durham, North Carolina, USA.
April McVeyDepartment of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA.
Michelle M MezeiDivision of Neurology, University of British Columbia, Vancouver, British Columbia, Canada.
Srikanth MuppidiDepartment of Neurology and Neurosciences, Stanford University, Stanford, California, USA.
Michael W NicolleDivision of Neurology, London Health Sciences Centre, London, Ontario, Canada.
Joel OgerDivision of Neurology, University of British Columbia, Vancouver, British Columbia, Canada.
Robert M PascuzziDepartment of Neurology, Indiana University-Purdue University, Indianapolis, Indiana, USA.
Mamatha PasnoorDepartment of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA.
Alan PestronkDepartment of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA.
Carlo ProvenzanoInstitute of General Pathology, Catholic University, Fondazione Policlinico Universitario "A. Gemelli"-I.R.C.C.S, Rome, Italy.
Roberta RicciardiDepartment of Neuroscience, University of Pisa, Pisa, Italy.
David P RichmanNeurology, Center for Neuroscience, University of California, Davis, California, USA.
Julie RowinAPAC Centers for Pain Management Wellness and Integrative Neurology, Westchester, Illinois, USA.
Donald B SandersDepartment of Neurology, Duke University Medical Center, Durham, North Carolina, USA.
Zaeem SiddiqiDepartment of Medicine, University of Alberta Hospital, Edmonton, Alberta, Canada.
Aimee SolowayDepartment of Medicine, University of Alberta Hospital, Edmonton, Alberta, Canada.
Gil I WolfeDepartment of Neurology, University at Buffalo State University of New York, Buffalo, New York, United States.
Charlie WulfDepartment of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA.
Daniel B Drachman *Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Bryan J Traynor *Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging Intramural Research Program, Bethesda, Maryland, USA traynorb@mail.nih.gov.
Johns Hopkins University · USUniversity of Kansas Medical Center · USAgostino Gemelli University Polyclinic · ITAlberta Hospital Edmonton · CADuke Medical Center · USUniversity of British Columbia · CAWashington University in St. Louis · USLondon Health Sciences Centre · CAThe Ohio State University Wexner Medical Center · USUniversity of North Carolina at Chapel Hill · USUniversity of Pisa · ITGeorge Washington University · USNational Institute on Aging · USPain Management Centers Of America · USStanford University · USUniversità Cattolica del Sacro Cuore · ITUniversity at Buffalo, State University of New York · USUniversity of California, Davis · USUniversity of Indianapolis · USUniversity of Miami · US

Funding

Rare Disease Network for Myasthenia GravisU54NS115054 · NINDS · GEORGE WASHINGTON UNIVERSITY · PI Kevin C O'Connor · 2019 to 2026
$11.9M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
Targeted Therapy for Myasthenia GravisR41NS110331 · NINDS · ARC BIOTECHNOLOGY, LLC · PI KAMINSKI, HENRY J · 2019 to 2020
$502k
Intramural NIH HHS Z01 AG000949NINDS NIH HHS R41 NS110331NINDS NIH HHS U54 NS115054
6 · The paper itself

Abstract

objectivesTo approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families.

designRetrospective cohort study.

settingClinics across North America.

participantsThe study included 1032 patients diagnosed with acetylcholine receptor antibody (AChR)-positive myasthenia gravis.

methodsPhenotype information of 1032 patients diagnosed with AChR-positive myasthenia gravis was obtained from clinics at 14 centres across North America between January 2010 and January 2011. A critical review of the epidemiological literature on the familial rate of myasthenia gravis was also performed.

resultsAmong 1032 patients, 58 (5.6%) reported a family history of myasthenia gravis. A history of autoimmune diseases was present in 26.6% of patients and in 28.4% of their family members. DISCUSSION: The familial rate of myasthenia gravis was higher than would be expected for a sporadic disease. Furthermore, a high proportion of patients had a personal or family history of autoimmune disease. Taken together, these findings suggest a genetic contribution to the pathogenesis of myasthenia gravis.

Indexed as

Myasthenia GravisAutoantibodiesHumansNorth AmericaReceptors, CholinergicRetrospective StudiesAutoantibodiesReceptors, Cholinergicepidemiologygeneticsneurogeneticsneurologyneuromuscular disease

Identifiers

PMID32948566
PMCPMC7511637
OpenAlexW3087691952

What OpenQuestion holds

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Registered trials

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.