Results 31 to 40 of about 260,514 (183)

Update on the genetics of congenital myopathies [PDF]

, 2019
The congenital myopathies form a large clinically and genetically heterogeneous group of disorders. Currently mutations in at least 27 different genes have been reported to cause a congenital myopathy, but the number is expected to increase due to the ...
Pelin, Katarina, Wallgren-Pettersson, Carina   +1 more
core   +1 more source

Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy

Frontiers in Genetics, 2023
Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments.
Cristina Skrypnyk, Cristina Skrypnyk, Aseel Ahmed Husain, Hisham Y. Hassan, Jameel Ahmed, Abdulla Darwish, Latifa Almusalam, Noureddine Ben Khalaf, Fahad Al Qashar   +8 more
doaj   +1 more source

Ryanodine receptor RyR1-mediated elevation of Ca2+ concentration is required for the late stage of myogenic differentiation and fusion

Journal of Animal Science and Biotechnology, 2022
Background Cytosolic Ca2+ plays vital roles in myogenesis and muscle development. As a major Ca2+ release channel of endoplasmic reticulum (ER), ryanodine receptor 1 (RyR1) key mutations are main causes of severe congenital myopathies.
Kai Qiu, Yubo Wang, Doudou Xu, Linjuan He, Xin Zhang, Enfa Yan, Lu Wang, Jingdong Yin   +7 more
doaj   +1 more source

Construct Validity and Reliability of the OMNI Scale in Children and Adolescents With Neuromuscular Diseases. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Cardoso J, Tonoli CC, Buzzetti BP, Davoli GB, Mattiello-Sverzut AC.   +4 more
europepmc   +2 more sources

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy

Clinical Case Reports, 2021
We report a case of neonatal nemaline myopathy with a de novo TPM3 mutation, which has been classified as a likely pathogenic mutation. With the expanding use of genetic testing in congenital myopathies, genotype‐phenotype descriptions of novel variants ...
Sulaiman Almobarak, Jonathan Hu, Kristopher D. Langdon, Lee‐Cyn Ang, Craig Campbell   +4 more
doaj   +1 more source

Single‐Nucleus Atlas of Spinal Sarcopenia Patients Reveals Disruption of Quiescent and Regenerative Satellite Cell Niches in Fatty‐Infiltrated Muscle

Advanced Science, EarlyView.
Mechanisms of Fatty Infiltration and Muscle Degeneration. Clinical metadata identified intramuscular fat accumulation as an independent driver of muscle mass decline. Single‐nucleus RNA sequencing of spinal sarcopenia muscle revealed adipogenic reprogramming of fibro‐adipogenic progenitors, satellite‐cell niche disruption, and elevated levels of the ...
Wenkai Wu, Renxian Wang, Dingding Wang, Quanzhong Ren, Ling Wang, Fangfang Duan, Guihe Yang, Ruixuan Yu, Yi Wang, Yingyu Zhang, Zetong Zang, Chuqi Li, Weijia Liu, Wenshuang Zhang, Yi Yuan, Zitong Cheng, Xiaoguang Cheng, Junbo Liang, Yajun Liu   +18 more
wiley   +1 more source

Muscle imaging in congenital myopathies.

, 2011
Congenital myopathies are a genetically heterogeneous group of early-onset myopathies classified according to the predominant histopathological findings in skeletal muscle.
Susana Quijano-Roy, Robert Y. Carlier, Fischer, Dirk, Quijano-Roy, Susana, Dirk Fischer, Carlier, Robert Y.   +5 more
core   +1 more source

Mitochondria‐Targeted Nanotherapeutics: A Promising Strategy in Modulating Mitochondrial Function, Transfer, and Transplantation

Advanced Science, EarlyView.
This review summarizes the pathogenic role of mitochondria in diseases and highlights mitochondrial transfer and transplantation as emerging therapeutic strategies. It systematically discusses how nanomaterials are engineered to facilitate these processes, and critically examines the current challenges and future perspectives for their clinical ...
Yuanyuan Su, Zhiyan Gong, Jiao Mu, Lili Huang, Pengfei Yang, Chenli Zhang, Lingshan Zhao, Liling Yang, Jun Deng, Xiaohui Liao   +9 more
wiley   +1 more source

Congenital myopathies: diseases of the actin cytoskeleton

, 2004
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness ranging in severity. Three major forms have been identified: actin myopathy, intranuclear rod myopathy, and nemaline myopathy.
Clarkson, E, Costa, C, Machesky, Laura M., Clarkson, Emilie, Machesky, Laura, Costa, Celine F.   +5 more
core   +1 more source