High‐Density Lipoprotein‐Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin‐Deficient Limb–Girdle Muscular Dystrophy Type R2
Data from the largest natural history cohort of LGMDR2 patients support the concept that dyslipidemia is a comorbidity of LGMDR2, and the causal role of cholesterol abnormalities in muscle death should be further investigated.
Authors
- Zoe White (ORCID: https://orcid.org/0000-0002-1734-9896)
- Elena Pegoraro (ORCID: https://orcid.org/0000-0002-7740-4156)
- Simone Spuler (ORCID: https://orcid.org/0000-0002-0155-1117)
- Maggie Christine Walter (ORCID: https://orcid.org/0000-0002-7611-4827)
- Diana Xerxes Bharucha-Goebel (ORCID: https://orcid.org/0000-0002-7437-0982)
- Pascal Bernatchez (ORCID: https://orcid.org/0000-0002-3198-1548)
- Tanya Stojkovic (ORCID: https://orcid.org/0000-0002-4054-2838)
- Volker Straub (ORCID: https://orcid.org/0000-0001-9046-3540)
- Madoka Mori‐Yoshimura (ORCID: https://orcid.org/0000-0003-4312-9114)
- Alan Pestronk (ORCID: https://orcid.org/0000-0002-8991-5770)
- Dan Cox (ORCID: https://orcid.org/0000-0002-5405-6267)
- Kristi Jones (ORCID: https://orcid.org/0000-0003-3833-9846)
- John Day (ORCID: https://orcid.org/0000-0002-0086-9529)
- Elena Bravver
- Laura Rufibach (ORCID: https://orcid.org/0000-0001-8208-0574)
- Jordi Díaz‐Manera (ORCID: https://orcid.org/0000-0003-2941-7988)
- H. Hilsden
- Heather Gordish Dressman
- Emmanuelle Salort-Campana
- Jerry R. Mendell (ORCID: https://orcid.org/0009-0006-3966-6303)
- Carmen Paradas
Institutions
- University of British Columbia Hospital (CA)
- The University of Sydney (AU)
- National Institutes of Health (US)
- Nationwide Children's Hospital (US)
- Carolinas Healthcare System (US)
- Children's National (US)
- University of Padua (IT)
- University of British Columbia (CA)
- George Washington University (US)
- Washington University in St. Louis (US)
- Max Delbrück Center (DE)
- Jain Foundation (US)
- St. Paul's Hospital (CA)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Children's Hospital at Westmead (AU)
- Sorbonne Université (FR)
- Assistance Publique Hôpitaux de Marseille (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- National Center of Neurology and Psychiatry (JP)
- National Institute of Neurological Disorders and Stroke (US)
- Institut de Myologie (FR)
- Instituto de Biomedicina de Sevilla (ES)
- Friedrich Baur Stiftung (DE)
- Institut de Neurosciences de la Timone (FR)
- Hospital Universitario Virgen del Rocío (ES)
- Tokyo National Hospital (JP)
- Hôpital de la Timone (FR)
- Ludwig-Maximilians-Universität München (DE)
- Newcastle University (GB)
- Stanford University (US)
Publication Details
- Journal
- Journal of Cachexia Sarcopenia and Muscle
- Published
- 2025-08-01
- DOI
- https://doi.org/10.1002/jcsm.70042
- Citations
- 3
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- Jain Foundation