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

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...

Full description

Saved in:
Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Wiley 2025-08-01
Series:Journal of Cachexia, Sarcopenia and Muscle
Subjects:
cholesterol
dysferlin
dyslipidemia
muscular dystrophy
Online Access:https://doi.org/10.1002/jcsm.70042
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items