Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
The 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.
Authors
- Mridul Johari (ORCID: https://orcid.org/0000-0002-3549-558X)
- Akanchha Kesari
- May Flowers
- Sandra T. Cooper (ORCID: https://orcid.org/0000-0002-7314-5097)
- Amanda Clause (ORCID: https://orcid.org/0000-0002-2078-7280)
- Monkol Lek (ORCID: https://orcid.org/0000-0003-1227-6293)
- Volker Straub (ORCID: https://orcid.org/0000-0001-9046-3540)
- Conrad C. Weihl (ORCID: https://orcid.org/0000-0002-3816-6124)
- J. Beckmann (ORCID: https://orcid.org/0000-0002-9741-1900)
- Melissa J. Spencer (ORCID: https://orcid.org/0000-0001-7104-544X)
- Alassane Baneye Maīga (ORCID: https://orcid.org/0000-0002-7296-7785)
- Laura Rufibach (ORCID: https://orcid.org/0000-0001-8208-0574)
- Shruthi Mohan (ORCID: https://orcid.org/0000-0002-2796-282X)
- Emma Owens
- Courtney Thaxton (ORCID: https://orcid.org/0000-0002-6733-369X)
- Peter B. Kang (ORCID: https://orcid.org/0000-0002-4270-7325)
- Shannon McNulty (ORCID: https://orcid.org/0000-0002-0566-4629)
- Giorgio Tasca (ORCID: https://orcid.org/0000-0003-0849-9144)
- Zhiyv Niu (ORCID: https://orcid.org/0000-0001-6068-5505)
- April Kennedy (ORCID: https://orcid.org/0009-0001-3873-3168)
- Lucas Bronicki
- Svetlana Gorokhova (ORCID: https://orcid.org/0000-0001-6870-4061)
- Marwa Elnagheeb
- Marco Savarese (ORCID: https://orcid.org/0000-0002-2591-244X)
- Brooke Palus
- Vijay S Ganesh (ORCID: https://orcid.org/0000-0002-8709-9351)
- Teagan Nunnery
- Kelly Macalalad
- Jennifer Lévy
- Autumn Self
Institutions
- Broad Institute (US)
- University of North Carolina at Chapel Hill (US)
- Brigham and Women's Hospital (US)
- The University of Sydney (AU)
- University of Minnesota (US)
- Mayo Clinic (US)
- University of Helsinki (FI)
- Children's Medical Research Institute (AU)
- Inserm (FR)
- University of California, Los Angeles (US)
- The University of Western Australia (AU)
- Illumina (United States) (US)
- Washington University in St. Louis (US)
- Aix-Marseille Université (FR)
- Children's Hospital of Eastern Ontario (CA)
- Harry Perkins Institute of Medical Research (AU)
- Jain Foundation (US)
- Hospital for Sick Children (CA)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Children's Hospital at Westmead (AU)
- Yale University (US)
- Université des Sciences, des Techniques et des Technologies de Bamako (ML)
- Hôpital de la Timone (FR)
- Newcastle University (GB)
- University of Lausanne (CH)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2024-08-30
- DOI
- https://doi.org/10.1002/acn3.52127
- Citations
- 3
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.70
Funders
- National Institutes of Health
- National Human Genome Research Institute