Results 81 to 90 of about 7,259,281 (171)

Limb-Girdle Muscular Dystrophy

, 2001
Sixty-one members of a large Spanish kindred with autosomal dominant limb-girdle muscular dystrophy (LGMD), spanning 5 generations, were examined at the Hospital Vail d’Hebron, Barcelona and other ...
J Gordon Millichap
core   +1 more source

Are Muscular Dystrophies Cholesterol‐Handling Diseases? Lessons From HMGCR Variants and Statin‐Associated Myopathies

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley   +1 more source

Patient‐Derived iPSC‐Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the CAV3 N‐Terminal Variant p.Ala46Thr

Human Mutation, Volume 2026, Issue 1, 2026.
The CAV3 p.Ala46Thr mutation is previously associated with skeletal muscle damage only, with its myocardial impact and long‐term cardiac risks unclear. This study is aimed at investigating whether it induces subclinical myocardial damage at the cellular level and explore its mechanism using a patient‐specific iPSC‐CMs model. To achieve this, peripheral
Junyi Wang, Xintong Zhu, Yaqiong Li, Limeng Dai, Xiaoyin Tan, Jia Li, Hong Guo, Boon-Peng Hoh   +7 more
wiley   +1 more source

Retinal Vascular Disease in Limb-Girdle Muscular Dystrophy

, 2022
PURPOSETo report bilateral retinal vascular occlusive disease in limb-girdle muscular dystrophy. METHODSCase report. RESULTSA 34-year-old Asian woman was referred for evaluation and management of central retinal vein occlusion.
Kennedy, Thomas, Shaheen, Abdulla R, Yannuzzi, Nicolas A, Yannuzzi, Lawrence A   +3 more
core   +1 more source

Apolipoprotein E knockout, but not cholesteryl ester transfer protein (CETP)-associated high-density lipoprotein cholesterol (HDL-C) lowering, exacerbates muscle wasting in dysferlin-null mice

Lipids in Health and Disease
Background Dysferlin-deficient limb-girdle muscular dystrophy type 2B (Dysf) mice are notorious for their mild phenotype. Raising plasma total cholesterol (CHOL) via apolipoprotein E (ApoE) knockout (KO) drastically exacerbates muscle wasting in Dysf ...
Zeren Sun, Zoe White, Marine Theret, Pascal Bernatchez   +3 more
doaj   +1 more source

Artificial restoration of the linkage between laminin and dystroglycan ameliorates the disease progression of MDC1A muscular dystrophy at all stages [PDF]

, 2005
Laminin-α2 deficient congenital muscular dystrophy, classified as MDC1A, is a severe progressive muscle-wasting disease that leads to death in early childhood.
Meinen, Sarina
core   +1 more source

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I

Mutations in the gene encoding fukutin-related protein cause limb-girdle muscular dystrophy 2I. In this multicenter retrospective analysis of 38 patients, 55.3% had cardiac abnormalities, of which 24% had developed cardiac failure.
Bushby K, Eagle M, Wrogemann K, Frosk P, Voit T, Shirodaria C, Poppe M, Straub V, Greenberg C, Muntoni F, Hilton-Jones D, Bourke J   +11 more
core   +5 more sources

Limb-Girdle Muscular Dystrophy Type 2B

Definitions, 2020

semanticscholar   +1 more source

Dystrophin glycoprotein complex dysfunction:a regulatory link between muscular dystrophy and cancer cachexia [PDF]

, 2005
Cachexia contributes to nearly a third of all cancer deaths, yet the mechanisms underlying skeletal muscle wasting in this syndrome remain poorly defined.
Butchbach, Matthew E R, Burghes, Arthur H M, Guttridge, Denis C, Sahenk, Zarife, Saji, Motoyasu, Acharyya, Swarnali, Ringel, Matthew D, Skipworth, Richard J E, Rafael-Fortney, Jill A, Wang, Huating, Ringel, Matthew D., Hollingsworth, Michael A, Carathers, Micheal, Fearon, Kenneth C H, Butchbach, Matthew E.R., Hollingsworth, Michael A., Muscarella, Peter, Guttridge, Denis C., Rafael-Fortney, Jill A., Skipworth, Richard J.E., Burghes, Arthur H.M., Fearon, Kenneth C.H.   +21 more
core   +1 more source

Limb girdle muscular dystrophy type 2A presenting with cardiac arrest

, 2001
The occurence of respiratory failure in progressive neuromuscular disorders is well recognized, This failure is observed most commonly in Duchenne dystrophy but sometimes occurs in Becker's, limb-girdle, and facioscapulohumeral dystrophies.
Semra Kurul, Aydin, ADEM, Barış Şahi̇n, Adem Aydin, Eray Di̇ri̇k, Kurul, S, Dirik, E, Sahin, B   +7 more
core   +1 more source