Results 41 to 50 of about 4,206 (207)

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients [PDF]

, 2013
The congenital myopathies include a wide spectrum of clinically, histologically and genetically variable neuromuscular disorders many of which are caused by mutations in genes for sarcomeric proteins.
El-Mezgueldi, M, Lehman, W, Li, X, Marston, S, McNamara, E, Memo, M, Messer, A, Nowak, K, Ong, R, Papadaki, M   +9 more
core   +1 more source

The clinicopathological characteristics analysis and differential diagnosis of muscle disorder cases with nemaline⁃shaped structure

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective Summarize the pathological and clinical characteristics of muscle disorder cases with nemaline⁃shaped structure, to improve the diagnosis and differential diagnosis of the disease.
ZHENG Dan⁃feng, LI Chun⁃yao, LIU Xiang⁃yi, GUO Wen⁃yang, MENG Qing⁃yang, ZHONG Yan⁃feng, ZHANG Ying⁃shuang   +6 more
doaj   +1 more source

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy [PDF]

, 2014
Peer ...
Adele D’Amico, Agrawal, Alan H. Beggs, Alla S. Kostyukova, Anders Flisberg, Ann E. Davidson, Annie Laquerrière, Biljana Ilkovski, Brett P. Thomas, Carina Wallgren-Pettersson, Carol C. Gregorio, Carsten G. Bönnemann, Catherine A. Brownstein, Chereau, Christopher T. Pappas, Coen A.C. Ottenheijm, Cooper, Daniel G. MacArthur, Darcée D. Sloboda, David Chitayat, David P. Bick, David S. Gokhin, de Winter, Edoardo Malfatti, Emily J. Todd, Enrico Bertini, Eva Holmberg, Flora Nolent, Gianina Ravenscroft, Gokhin, Granzier, Greenfield, Ichizo Nishino, James J. Dowling, Judith Melki, Jérome Maluenda, Katarina Pelin, Kate G. Quinlan, Kathryn N. North, Kostyukova, Kouyama, Leigh B. Waddell, Lindsay C. Swanson, Livija Medne, Majczenko, Mark J. Daly, Menezes, Michaela Yuen, Monkol Lek, Namrata Gupta, Nanda, Natalia Moroz, Nicole Martin, Nigel F. Clarke, Nigel G. Laing, Norma B. Romero, Ozge Ceyhan-Birsoy, Pablo Lapunzina, Patrick Shannon, Peter J. Houweling, Peter Van den Bergh, Ravenscroft, Ryan, Sarah A. Sandaradura, Sloboda, Stacey B. Gabriel, Stefanie M. Novak, Telfer, Tsukada, Vandana A. Gupta, Velia M. Fowler, Vilma-Lotta Lehtokari, William R. Telfer, Yukiko K. Hayashi   +73 more
core   +1 more source

WHY IS THERE A LIMIT TO THE CHANGES IN MYOFILAMENT Ca2+-SENSITIVITY ASSOCIATED WITH MYOPATHY CAUSING MUTATIONS? [PDF]

, 2016
Mutations in striated muscle contractile proteins have been found to be the cause of a number of inherited muscle diseases; in most cases the mechanism proposed for causing the disease is derangement of the thin filament-based Ca2+-regulatory systemof ...
Marston, SB
core   +2 more sources

Phenotypes induced by NM causing α-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes

BMC Research Notes, 2009
Background Nemaline myopathy is a neuromuscular disorder characterized by the presence of nemaline bodies in patient muscles. 20% of the cases are associated with α-skeletal muscle actin mutations. We previously showed that actin mutations can cause four
Vandamme Drieke, Lambert Ellen, Waterschoot Davy, Tondeleir Davina, Vandekerckhove Joël, Machesky Laura M, Constantin Bruno, Rommelaere Heidi, Ampe Christophe   +8 more
doaj   +1 more source

Multi-minicore Disease [PDF]

, 2007
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown.
Heinz Jungbluth, AG Engel, C Wallgren-Pettersson, MI Hughes, N Darin, Y Zhang, H Jungbluth, H Jungbluth, A Ferreiro, A Shuaib, H Bonnette, AM Magliocco, AZJ Zeman, A Ferreiro, RB Fitzsimons, KP Rimmer, PW Rowe, H Jungbluth, M Swash, GK van Wijngaarden, PH Gordon, H Jungbluth, N Monnier, A Ferreiro, H Jungbluth, H Jungbluth, E Mercuri, MA Denborough, BM Koch, H Osada, V Barone, S Guis, J Bethlem, AN Bender, AKW Brownell, JA Vanneste, L Paljaervi, T Yoshida, B Moghadaszadeh, RC McKenzie, N Petit, M Deniziak, H Zhou, NB Romero, MS Phillips, G Meissner, T Wagenknecht, S Treves, S Wu, J Tong, RT Dirksen, S Ducreux, H Zhou, F Zorzato, V Dubowitz, CA Sewry, S Jongpiputvanich, CA Sewry, CG Bonnemann, M Herasse, H Jungbluth, P Nurenberg, JF Pellissier, I Tein, M Ohkubo, AE Chudley, YS Lee, N Hulsmann, JM Vallat, C Thomas, PC Scacheri, N Monnier, H Jungbluth, AM Kaindl, V Carmignac, E Bertini, SL Maidment, MAAP Willemsen, UJM Hagberg, C Wallgren-Pettersson, MA Denborough, S Messina   +81 more
core   +1 more source

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS [PDF]

, 2015
published_or_final_versio
Chen, WT, Chou, CH, Feng, Y, Hsu, YY, Huang, HD, Jong, YJ, Lam, CW, Liang, WC, Lin, TS, Tian, X, Wang, J, Wong, LJ, Zhang, VW   +12 more
core   +1 more source

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

Clinical Genetics, Volume 109, Issue 4, Page 772-777, April 2026.
CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim, Pål Marius Bjørnstad, Mari Elen Strand, Vivian Cecilie Orszagh, Uffe Birk Jensen, Eirik Frengen   +7 more
wiley   +1 more source

Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy

Disease Models & Mechanisms, 2014
Nemaline myopathy is an inherited muscle disease that is mainly diagnosed by the presence of nemaline rods in muscle biopsies. Of the nine genes associated with the disease, five encode components of striated muscle sarcomeres.
Joachim Berger, Hakan Tarakci, Silke Berger, Mei Li, Thomas E. Hall, Anders Arner, Peter D. Currie   +6 more
doaj   +1 more source

Anesthetic care for a child with undiagnosed myopathic/mitochondrial disease for gastrostomy tube placement and muscle biopsy. [PDF]

Pediatric Anesthesia and Critical Care Journal (PACCJ), 2020
Disorders of the motor nerves, neuromuscular junction or muscle can affect children of all ages. These patients may present for therapeutic or diagnostic procedures (muscle and nerve biopsy) prior to arrival at a definitive diagnosis.
D. M. Munlemvo, A. Syed, N. Kimmet, S. Hayes, J. D. Tobias   +4 more
doaj   +1 more source