Results 61 to 70 of about 1,552 (162)

Interpretation of elevated baseline concentrations and serial changes of high‐sensitivity cardiac troponin T in confirmed muscular dystrophies

ESC Heart Failure, Volume 11, Issue 6, Page 3732-3741, December 2024.
Abstract Aims Concentrations of high‐sensitivity cardiac troponin T (hs‐cTnT) are frequently elevated in stable patients with confirmed muscle dystrophies. However, sparse information is available on the interpretation of serial concentration changes. Methods Hs‐cTnT was collected in 35 stable outpatients with confirmed skeletal muscle dystrophies at 0
Mustafa Yildirim, Christoph Reich, Christian Salbach, Regina Pribe‐Wolferts, Barbara Ruth Milles, Tobias Täger, Matthias Mueller‐Hennessen, Markus Weiler, Benjamin Meder, Norbert Frey, Evangelos Giannitsis   +10 more
wiley   +1 more source

Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message This case highlights the challenges in diagnosing Bethlem myopathy, the need for a high index of suspicion, and the importance of recognizing the diverse clinical presentations of this rare condition. Enhanced understanding can aid in early diagnosis and tailored management.
Maryam Kachuei, Kiana Orangi, Aynaz Mohammadi, Mohammad Mohammadi, Marzieh Mojbafan   +4 more
wiley   +1 more source

Gamma-sarcoglycanopathy.

Indian pediatrics, 2004
The best known muscular dystrophies are X-linked dystrophinopathies. A clinically and genetically heterogeneous group presenting with weakness of the pelvic and shoulder girdles is that of the limb-girdle muscular dystrophies (LGMDs). Sarcoglycanopathies (SGPs) are autosomal recessive LGMDs. We report a rare case of primary gamma-sarcoglycanopathy (SGP)
Sheffali, Gulati, Surbhi, Leekha, M C, Sharma, Veena, Kalra   +3 more
openaire   +1 more source

Loss of Calpain 3 dysregulates store‐operated calcium entry and its exercise response in mice

The FASEB Journal, Volume 38, Issue 14, 31 July 2024.
In resting control skeletal muscles, store operated Ca2+ entry (SOCE) is low, and sarcoplasmic reticulum (SR) Ca2+ stores are high. Exercise depletes SR Ca2+ and triggers SOCE. Loss of Calpain 3 elevates resting SOCE and disrupts exercise induced SOCE.
Katelyn R. Villani, Renjia Zhong, C. Spencer Henley‐Beasley, Giorgia Rastelli, Erin Harris, Simona Boncompagni, Elisabeth R. Barton, Lan Wei‐LaPierre   +7 more
wiley   +1 more source

Engineering Innervated Musculoskeletal Tissues for Regenerative Orthopedics and Disease Modeling

Small, Volume 20, Issue 23, June 5, 2024.
Coupling of the peripheral nervous system to the musculoskeletal system and its implications on tissue engineering strategies for MSK regeneration and disease modeling. Abstract Musculoskeletal (MSK) disorders significantly burden patients and society, resulting in high healthcare costs and productivity loss.
Zhilong Zhou, Jun Liu, Tiandi Xiong, Yuwei Liu, Rocky S. Tuan, Zhong Alan Li   +5 more
wiley   +1 more source

[Sarcoglycanopathies: state of the art and therapeutic perspectives].

Medecine sciences : M/S, 2020
Sarcoglycanopathies are the third most common cause of autosomal recessive limb girdle muscular dystrophies (LGMD). They are the result of a deficiency in one of the sarcoglycans a, b, g, or d. The usual clinical presentation is that of a symmetrical involvement of the muscles of the pelvic and scapular girdles as well as of the trunk, associated with ...
Fernández-Eulate, Gorka, Leturcq, France, Laforêt, Pascal, Richard, Isabelle, Stojkovic, Tanya   +4 more
openaire   +2 more sources

Targeting the ER Quality Control as a novel therapeutic approach for sarcoglycanopathy

, 2015
Sarcoglycanopathy is a rare genetic disorder mainly affecting the proximal musculature. Defects in any one of the genes coding for α-, β-, δ- or γ-sarcoglycan (SG), four cell-membrane proteins forming an essential complex of striated muscle, lead to the ...
Elisa Bianchini, Chiara Gomiero, Dorianna Sandonà, Romeo Betto, Roberta Sacchetto   +4 more
core  

Novel therapeutic perspectives for sarcoglycanopathy: rescue of folding-defective mutants by means of protein folding correctors

, 2017
Sarcoglycans (SG) are glycosylated proteins (α-, β-, γ- or δ-SG) forming a key structural complex, essential for the sarcolemma integrity of striated muscles during contraction.
Elisa Bianchini, Chiara Gomiero, Dorianna Sandonà, Chiara Fecchio, Roberta Sacchetto, Marcello Carotti   +5 more
core  

Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies)

, 2018
International audienceCardiac and respiratory function may be impaired in sarcoglycanopathies, a subgroup of muscular dystrophies due to sarcoglycan proteins (α, β, γ, and δ) genes mutations.
Abdallah Fayssoil, Laforet, Pascal, Adam Ogna, France Leturcq, Orlikowski, David, Pascal Laforet, Annane, Djillali, Olivier Nardi, Prigent, Helene, Yaou, Rabah Ben, Meng, Paris, Nguyen, Lee, Clair, Bernard, Rabah Ben Yaou, Ogna, Adam, Bernard Clair, Djillali Annane, Lee S. Nguyen, Frederic Lofaso, David Orlikowski, Fayssoil, Abdallah, Lofaso, Frederic, Paris Meng, Nardi, Olivier, Leturcq, France, Helene Prigent   +25 more
core   +1 more source

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source