Results 121 to 130 of about 12,116 (229)

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients [PDF]

, 2017
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres.
Brodherr, Turgut, Bruchertseifer, Vera, Eger, Katharina, Fischer, Dirk, Fürst, Dieter O., Germing, Alfried, Hellenbroich, Yorck, Heyer, Christoph M., Huebner, Angela, Ketelsen, Uwe-Peter, Kirschner, Janbernd, Kley, Rudolf A., Lochmüller, Hanns, Müller, Klaus, Peters, Sören A., Reum, Conny, Schröder, Rolf, Tolksdorf, Karen, van der Ven, Peter F. M., Vorgerd, Matthias, Walter, Maggie C.   +20 more
core  

Distal Myopathy [PDF]

Proceedings of the Royal Society of Medicine, 1913
openaire   +2 more sources

Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy [PDF]

, 2018
Oculopharyngeal muscular dystrophy (OPMD) is a progressive skeletal muscle dystrophy characterized by ptosis, dysphagia, and upper and lower extremity weakness.
Bieri, Oliver, Fasler, Susanne, Fischer, Dirk, Fischmann, Arne, Gloor, Monika, Haas, Tanja, Heinimann, Karl, Rodoni Wetzel, Rachele, Scheffler, Klaus, Wetzel, Stephan   +9 more
core  

Overlapping phenotype of GNE myopathy and dystrophinopathy: a rare case with dual variants from India

Journal of Rare Diseases
Purpose Distal myopathies are rare neuromuscular disorders, among which GNE myopathay (also known as Nonaka myopathy) results from autosomal recessive mutations in the GNE [glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase] gene, while ...
Tamali Halder, Deepika Joshi, Parimal Das   +2 more
doaj   +1 more source

Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers [PDF]

, 2019
Desmin-associated myofibrillar myopathy (MFM) has pathologic similarities to neurodegeneration-associated protein aggregate diseases. Desmin is an abundant muscle-specific intermediate filament, and disease mutations lead to its aggregation in cells ...
Arhzaouy, Khalid, Batchelor, Mark, Bieschke, Jan, Kedia, Niraja, Pittman, Sara K., Sun, Yuanzi, Weihl, Conrad C.   +6 more
core   +1 more source

Full recovery over one year of the overlap syndrome scleromyositis to maintenance therapy with mycophenolate mofetil and rituximab, which relapsed within 8 months of discontinuation

European Journal of Case Reports in Internal Medicine
Scleromyositis (SM) is an emerging, distinct entity within the spectrum of diffuse systemic sclerosis (SSc) and autoimmune inflammatory myopathies. It can carry a poorer prognosis due to multisystem involvement and extramuscular complications, with no ...
Inês Amarante, Catarina Faustino, Bruna Mota, Mariana Cascais, Jorge Almeida, Marta Valentim   +5 more
doaj   +1 more source

Rituximab in the treatment of inflammatory myopathies: a review [PDF]

, 2017
Several uncontrolled studies have encouraged the use of rituximab (RTX) in patients with myositis. Unfortunately, the first placebo-phase trial to assess the efficacy of RTX in refractory myositis did not show a significant difference between the two ...
Fasano, S, Gordon, P, Hajji, R, Isenberg, DA, Loyo, E   +4 more
core  

Analysis on clinical features of necrotizing autoimmune myopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2016
Objective To investigate the clinical manifestations and auxiliary examination features of necrotizing autoimmune myopathy (NAM). Methods According to the inclusion criteria from European Neuromuscular Center (ENMC) International Workshop on ...
Yi LI, Jun FU, Ling-chao MENG, Wei ZHANG, Zhao-xia WANG, He LÜ, Yue-huan ZUO, Yun YUAN   +7 more
doaj  

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies. [PDF]

Eur J Neurol
Payá M, Portela S, Sivera R, Frasquet M, Más-Estellés F, Martí P, Azorín I, Aragon-Gawinska K, Tárrega M, Argente-Escrig H, Vázquez-Costa JF, Vilchez R, Vilchez JJ, Sevilla T, Muelas N.   +14 more
europepmc   +1 more source

[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients]. [PDF]

Rev Neurol
Oliveros-Acuña N, Tafur-Gómez N, Ortiz-Corredor F, Castellar-Leones S, Rojas-García W, Correa-Arrieta C.   +5 more
europepmc   +1 more source