Results 51 to 60 of about 805 (150)

Characterisation of phenotypic patterns in equine exercise‐associated myopathies

Equine Veterinary Journal, Volume 57, Issue 2, Page 347-361, March 2025.
Abstract Background Equine exercise‐associated myopathies are prevalent, clinically heterogeneous, generally idiopathic disorders characterised by episodes of myofibre damage that occur in association with exercise. Episodes are intermittent and vary within and between affected horses and across breeds.
Victoria Lindsay‐McGee, Claire Massey, Ying Ting Li, Emily L. Clark, Androniki Psifidi, Richard J. Piercy   +5 more
wiley   +1 more source

Gene therapy for genetic diseases: challenges and future directions

MedComm, Volume 6, Issue 2, February 2025.
The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie, Jianghua Tuo, Feilong Chen, Haili Ding, Lei Lyu   +4 more
wiley   +1 more source

Calf Muscles Hypertrophy in Sarcoglycanopathy

Journal of Postgraduate Medicine, Education and Research, 2017
ABSTRACT Though calf muscle hypertrophy is thought to be a signatory finding of dystrophinopathies, it can also be observed in other muscular dystrophies. Failure to recognise this may result in diagnostic errors. We present a patient with delta sarcoglycanopathy who had hypertrophy of the brachioradialis, gastrocnemius and extensor digitorum brevis ...
Manish Modi, Aditya Choudhary, Manoj Goyal, Bishan D Radotra, Rakesh K Vasishta, Balan L Gaspar   +5 more
openaire   +1 more source

Possible Involvement of CSPG4 in Promoting Endothelial Cell Migration and Contributing to Angiogenesis during Skeletal Muscle Regeneration and Development in the Rat

Animal Science Journal, Volume 96, Issue 1, January/December 2025.
ABSTRACT Skeletal muscle regeneration is a complex process that requires coordinated interactions between myogenic and vascular cells. Chondroitin sulfate proteoglycan 4 (CSPG4), a cell surface proteoglycan, had been shown to be expressed around immature myofibers in patients with Duchenne muscular dystrophy, suggesting its role in muscle regeneration.
Riku Yamaguchi, Masanari Ikeda, Shiho Takeuchi, Katsuyuki Nakamura, Akbota Kurmangaliyeva, Naomi Teramoto, Hidetoshi Sugihara, Chihiro Kikawa, Takashi Matsuwaki, Masugi Nishihara, Keitaro Yamanouchi   +10 more
wiley   +1 more source

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

Sarcoglycanopathies: an enigmatic form of muscular dystrophy - a report of 7 cases

, 2004
BACKGROUND: Limb girdle muscular dystrophy (LGMD) is a phenotypic expression of a heterogeneous group of diseases and sarcoglycanopathy is one of the causes of LGMD. There is only one study on sarcoglycanopathies in the Indian literature.
V. Kalra, M. C. Sharma, S. Gulati, C. Sarkar, R. Mannan, N. G. Singh   +5 more
core   +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

Additional file 5: of Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients

, 2019
Table S3. Pathologic changes and prediction of genotype based on expression of sarcoglycans in patients with sarcoglycanopathies.
Yue Hou (2562085), Zhaoxia Wang (470659), Wei Zhang (405), Yilin Liu (1991839), Meng Yu (145821), Yanbin Fan (6339836), Hui Xiong (541837), Yun Yuan (748928), Zhiying Xie (6339833)   +8 more
core   +1 more source