Results 31 to 40 of about 12,116 (229)

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

Myopathy with anti-HMGCR antibodies: Perimysium and myofiber pathology [PDF]

, 2015
OBJECTIVE: To analyze clinical features and myopathology changes in muscle fibers, connective tissue, and vessels in 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibody–associated myopathies.
Alshehri, Ali, Bucelli, Robert, Choksi, Rati, Pestronk, Alan   +3 more
core   +2 more sources

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

Molecular Genetics and Metabolism Reports, 2020
Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 (GYG1) deficiency characterized by the presence of polyglucosan bodies on muscle biopsy (Polyglucosan body myopathy-2, PGBM2). Here we describe a 44 
Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt   +8 more
doaj   +1 more source

Increasing Role of Titin Mutations in Neuromuscular Disorders [PDF]

, 2016
Peer ...
Hackman, Peter, Sarparanta, Jaakko, Savarese, Marco, Udd, Bjarne, Vihola, Anna   +4 more
core   +2 more sources

DNA methylation dynamics in muscle development and disease [PDF]

, 2015
DNA methylation is an essential epigenetic modification for mammalian development and is crucial for the establishment and maintenance of cellular identity.
Carrió Gaspar, Elvira, Suelves Esteban, Mònica   +1 more
core   +3 more sources

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies [PDF]

, 2008
Background: Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement ...
JL De Bleecker, S Nakano, D Selcen, M Olive, R Schroder, KG Claeys, KG Claeys, LG Goldfarb, P Vicart, D Selcen, M Vorgerd, D Selcen, D Selcen, D Selcen, T Sato, M Ohlsson, R Schroder, M Olive, KM Forrest, HM McLaughlin, KG Claeys, M Olive, J Gamez, G Vattemi, J Palmio, G Pfeffer, A Dagvadorj, D Selcen, MC Walter, RA Kley, S Sacconi, P Pruszczyk, M Olive, T Yuri, K Strach, Z Odgerel, D Hong, C Hedberg, A Ariza, AM Munoz-Marmol, G Pinol-Ripoll, X Luan, MC Dalakas, M Henderson, R Izumi, F Jaffer, P Reilich, HC Lee, T Kraya, F Hanisch, D Fischer, MP Wattjes, PR Joshi, V Dubowitz, J Weis, F Sanger, N Vasli, T Sato, K Wahbi, RA Kley, A Pilotto   +60 more
core   +5 more sources

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

Frontiers in Neurology, 2018
GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist.
Tyler Soule, Cecile Phan, Chris White, Lothar Resch, Atilano Lacson, Kristina Martens, Gerald Pfeffer, Gerald Pfeffer   +7 more
doaj   +1 more source

Flexible intramedullary nailing for distal femoral fractures in patients with myopathies

Journal of Children's Orthopaedics, 2012
Purpose Distal femoral fractures are quite common in nonambulating patients with myopathies, as they present marked osteoporosis. The deterioration of preexisting knee flexion contracture is a known problem, as these fractures are usually angulated ...
Hanspeter Huber, Guillaume André, Francine Rumeau, Pierre Journeau, Thierry Haumont, Pierre Lascombes   +5 more
doaj   +1 more source

A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report

BMC Neurology, 2019
Background Myofibrillar myopathies (MFMs) are a genetically heterogeneous group of muscle disorders. Mutations in the filamin C gene (FLNC) have previously been identified in patients with MFM. The phenotypes of FLNC-related MFM are heterogeneous.
Juanjuan Chen, Jun Wu, Chunxi Han, Yao Li, Yuzu Guo, Xiaoxin Tong   +5 more
doaj   +1 more source

 A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

BMC Neurology, 2023
Background We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. Case presentation A 35-year-old Chinese male patient presented with a history of progressive finger weakness ...
Zhiyong Chen, Monica Saini, Jasmine Shimin Koh, Gareth Zigui Lim, Nancy Jiaojiao Dang, Kalpana Prasad, Swee Hoon Koh, Karine Su Shan Tay, Ming Lee, Helen Lisa Ong, Yi Zhao, Ankit Tandon, Josiah Yui Huei Chai   +12 more
doaj   +1 more source