Results 11 to 20 of about 2,278 (204)

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES [PDF]

Neuromuscular Disorders, 2021
S. Silverstein, S. Syeda, A. Foley, K. Meilleur, M. Leach, P. Uapinyoying, K. Chao, S. Donkervoort, C. Bönnemann   +8 more
  +23 more sources

Mechanistic Insights Into NFIX-Mediated DNA Recognition and Transcriptional Regulation in Skeletal Muscle. [PDF]

Smart Med
An atomic view of the NFIX–DNA complex reveals recognition of the TGGCA motif and links sequence‐specific binding to the transcriptional programs governing skeletal muscle development and disease. ABSTRACT Skeletal muscle is essential for voluntary movement and exhibits a remarkable capacity for regeneration following injury.
Zhu C, Liu S, Chen X, Qin C, Wang Y, Xue C, Li L, Du W, Chen X, Li X, Shen J, Song H.   +11 more
europepmc   +2 more sources

A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing [PDF]

Neonatal Medicine, 2021
Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset.
Yoong-a Suh, Young Bae Sohn, Moon Sung Park, Jang Hoon Lee   +3 more
doaj   +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

Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant

American Journal of Perinatology Reports, 2021
Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions.
Gloria Akuamoah-Boateng, Raymond C. Stetson, Bethany D. Kaemingk, David A. Bieber, Jane E. Brumbaugh   +4 more
doaj   +1 more source

Nemaline myopathy in newly diagnosed systemic lupus erythematosus and Sjögren’s overlap syndrome complicated by macrophage activation syndrome

BMC Rheumatology, 2022
Background Nemaline myopathies are congenital or acquired muscle disorders that typically present in childhood but can occasionally occur in adults with underlying malignant, infectious or autoimmune disorders.
Christina Vogel, Poonam Manwani, Marcia E. Cornford, Emil R. Heinze   +3 more
doaj   +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

A rare structural myopathy: nemaline myopathy [PDF]

Türk Pediatri Arşivi, 2018
Nemaline myopathy, which is characterized by the accumulation of ''rod'' bodies in muscle fibers is a very rare inherited muscle disease. According to the underlying mutation, the disease has varying severity of clinical outcomes. Patients with severe forms of the disease die because of hypotonia, feeding difficulties, aspiration pneumonia, and ...
Yeşilbaş, Osman, Şevketoğlu, Esra, Kıhtır, Hasan Serdar, Ersoy, Melike, Petmezci, Mey Talip, Akkuş, Canan Hasbal, Şahin, Önder, Ceylaner, Serdar   +7 more
openaire   +2 more sources

Calcium Homeostasis in Myogenic Differentiation Factor 1 (MyoD)-Transformed, Virally-Transduced, Skin-Derived Equine Myotubes [PDF]

, 2014
Dysfunctional skeletal muscle calcium homeostasis plays a central role in the pathophysiology of several human and animal skeletal muscle disorders, in particular, genetic disorders associated with ryanodine receptor 1 (RYR1) mutations, such as malignant
A Hovnanian, A Klein, A Margreth, Atsushi Asakura, C Drogemuller, Cesare M. Terracciano, CM Isgren, DR Laver, E Zvaritch, EC McKenzie, EC McKenzie, F Ghassemi, FL Cole, G Avila, G Cherednichenko, Georges Vassaux, GG Harrison, GL Walmsley, H Gissel, H Jungbluth, H Weintraub, H Zhou, H Zhou, H Zhou, HK DiMaio Knych, J Choi, J Fujii, J Garcia, J Huang, J Larsen, J Ma, J Tong, JM Eltit, JM Eltit, JM Healy, JM MacLeay, JR Lopez, JR Lopez, JR Mickelson, K Anderson, K Jurkat-Rott, KP Glahn, L Csernoch, L Lattanzi, LR Lentz, M Aleman, M Fernandez-Fuente, M Fernandez-Fuente, MA Denborough, Marta Fernandez-Fuente, MC Roberts, MG Larach, MH Court, MJ Hull, MM Upjohn, N Dlamini, N Tilgen, NC Voermans, NM Burton, Pilar Martin-Duque, PJ Lynch, PK Dranchak, R Yasin, RA Bannister, RA Bannister, Richard J. Piercy, S Ducreux, S Gyorke, S Hollingworth, Susan C. Brown, T Abe, T Yang, TB Rogers, TC He, TV McCarthy, X Zhao   +75 more
core   +5 more sources

Disruption of cardio-pulmonary coupling in myopathies: Pathophysiological and mechanistic characterization with special emphasis on nemaline myopathy

Frontiers in Cardiovascular Medicine, 2022
The heart and lung are in continuous reciprocal interaction that creates a functional and anatomical reserve referred to as cardiopulmonary coupling (CPC).
Diana Maria Ronderos-Botero, Arundhati Dileep, Laura Yapor, Ravish Singhal   +3 more
doaj   +1 more source