Results 21 to 30 of about 5,284 (245)

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

A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy

Frontiers in Neurology, 2021
Nemaline myopathy is a rare disorder affecting the muscle sarcomere. Mutations in nebulin gene (NEB) are known to be responsible for about 50% of nemaline myopathy cases.
Nathalie Laflamme, Baiba Lace, Samarth Thonta Setty, Nadie Rioux, Yvan Labrie, Arnaud Droit, Nicolas Chrestian, Serge Rivest   +7 more
doaj   +1 more source

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice [PDF]

, 2017
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and
Alves, MM, Brooks, AS, Brosens, E, Brouwer, RWW, Burns, AJ, Christie, CK, de Mesy Bentley, KL, Djuwantono, T, Doukas, M, Halim, D, Han, Y, Hofstra, RMW, Jin, ZG, Lyu, Q, Miano, JM, Nanda, V, Oliver, D, Slivano, OJ, Stoop, H, Tibboel, D, van IJcken, WFJ, Verheij, JBGM, Wilson, MP, Xu, S, Yan, W   +24 more
core   +12 more sources

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

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies [PDF]

, 2014
Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome.
Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Clarke, Nigel F., de Visser, Marianne, Eymard, Bruno, Frydman, Moshe, Gerard, Marion, Gilbert-Dussardier, Brigitte, Grönholm, Mikaela, Hogue, Jacob S., Kang, Peter B., Klinge, Lars, Kolski, Hanna, Laing, Nigel G., Lehtokari, Vilma-Lotta, Lochmüller, Hans, Longman, Cheryl, Magy, Laurent, Manel, Véronique, Marston, Steven, Marttila, Minttu, Mayer, Michèle, Mercuri, Eugenio, Monnier, Nicole, North, Kathryn N., Nowak, Kristen, Nyman, Tuula A., Pelin, Katarina, Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, Wallgren-Pettersson, Carina, Wilichowski, Ekkehard, Winder, Tom L., Winer, John   +40 more
core   +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

neb: a zebrafish model of nemaline myopathy due to nebulin mutation

Disease Models & Mechanisms, 2012
SUMMARY Nemaline myopathy is one of the most common and severe non-dystrophic muscle diseases of childhood. Patients typically present in infancy with hypotonia, weakness, delayed motor development, and bulbar and respiratory difficulties.
William R. Telfer, Darcee D. Nelson, Trent Waugh, Susan V. Brooks, James J. Dowling   +4 more
doaj   +1 more source

Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene

Stem Cell Research, 2021
Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of nemaline bodies in myofibres. Approximately 25% of NM cases are caused by variants in ACTA1. We generated two induced pluripotent stem
Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor   +9 more
doaj   +1 more source

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. [PDF]

, 2015
Dominant mutations in TPM3, encoding α-tropomyosin(slow), cause a congenital myopathy characterized by generalized muscle weakness. Here, we used a multidisciplinary approach to investigate the mechanism of muscle dysfunction in 12 TPM3-myopathy patients.
Beggs, AH, Clarke, NF, Cooper, ST, de Winter, JM, Ilkovski, B, Klinge, L, Marston, SB, McNamara, E, Mokbel, N, North, KN, Nowak, KJ, Ottenheijm, CA, Ravenscroft, G, Rendu, J, Yuen, M   +14 more
core   +1 more source

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage [PDF]

, 2020
Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle.
Dellgren, Göran, Glamuzina, Emma, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Kornblum, Cornelia, Oldfors, Anders, Roach, Peter, Sandstedt, Joakim, Tasca, Giorgio, Thomsen, Christer, Visuttijai, Kittichate   +10 more
core   +1 more source