Results 1 to 10 of about 1,422 (160)

Monoclonal gammopathy of undetermined significance with associated necrotizing myopathy: a case report and review of the literature [PDF]

European Journal of Case Reports in Internal Medicine
Background: Monoclonal gammopathies encompass many types of plasma cell proliferative disorders ranging from benign to malignant. Monoclonal gammopathies that meet diagnostic criteria for monoclonal gammopathies of undetermined significance (MGUS) but ...
Anna Bode, Oscar Borja Montes, Karen SantaCruz, Abu Baker Sheikh   +3 more
doaj   +2 more sources

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

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

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

Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype

Acta Neuropathologica Communications, 2021
The MYH2 gene encodes the skeletal muscle myosin heavy chain IIA (MyHC-IIA) isoform, which is expressed in the fast twitch type 2A fibers. Autosomal dominant or recessive pathogenic variants in MYH2 lead to congenital myopathy clinically featured by ...
Nicolas N. Madigan, Michael J. Polzin, Gaofeng Cui, Teerin Liewluck, Mohammad H. Alsharabati, Christopher J. Klein, Anthony J. Windebank, Georges Mer, Margherita Milone   +8 more
doaj   +1 more source