High‐Density Lipoprotein‐Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin‐Deficient Limb–Girdle Muscular Dystrophy Type R2

ABSTRACT Background Limb–girdle muscular dystrophy (MD) type R2 (LGMDR2, formerly LGMD2B) is an autosomal recessive form of MD caused by variants in the dysferlin gene, DYSF. It leads to slow proximal and distal muscle weakening that generally results in loss of ambulation around early adulthood but...

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Autores principales:	Zoe White, Laura Rufibach, Heather Gordish Dressman, Heather Hilsden, Dan Cox, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha‐Goebel, Emmanuelle Salort‐Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori‐Yoshimura, Elena Bravver, Jordi Diaz‐Manera, Elena Pegoraro, Jerry R. Mendell, the Jain COS Consortium, Volker Straub, Pascal Bernatchez
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2025-08-01
Colección:	Journal of Cachexia, Sarcopenia and Muscle
Materias:	cholesterol dysferlin dyslipidemia muscular dystrophy
Acceso en línea:	https://doi.org/10.1002/jcsm.70042
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