Results 21 to 30 of about 7,609 (214)

Intrafamilial phenotypic variability of DNAJB6 mutation associated autosomal dominantly inherited myopathy: a family report and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations and ...
LI Fan, YU Meng, XIE Zhi⁃ying, WANG Qing⁃qing, LIU Jing, ZHANG Wei, LÜ He, YUAN Yun, WANG Zhao⁃xia   +8 more
doaj  

Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan

Orphanet Journal of Rare Diseases, 2020
Background GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric ...
Wakako Yoshioka, Naoyuki Miyasaka, Ryo Okubo, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Ichizo Nishino, Harumasa Nakamura, Madoka Mori-Yoshimura   +8 more
doaj   +1 more source

Angiographic characteristics of vasculopathy in patients with idiopathic inflammatory myopathies and systemic sclerosis

Scientific Reports, 2022
To describe the peripheral angiographic features of vasculopathy in idiopathic inflammatory myopathies (IIM) and systemic sclerosis (SSc) in comparison to polyarteritis nodosa (PAN).
Jina Yeo, Eun-Ah Park, Eun Bong Lee, Jin Kyun Park   +3 more
doaj   +1 more source

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients [PDF]

, 2016
BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation ...
Fiorillo, C., M. Grandis, C. Rodolico, E. Mercuri, Fanin, M., Messina, S, E. Pegoraro, Mercuri, E, Toscano, A., Tasca, G., Trovato, R., Santoro, L, Italian Network on Congenital Myopathies, ., M. Mora, Morandi, L, Minetti, C., Petrucci, A, Mongini, Tiziana Enrica, Massa, R., Nigro, V., Mongini, T, E. Bertini, L. Maggi, R. Trovato, Bertini, E., M. Savarese, T. Mongini, BELLO, LUCA, null null, Musumeci, O, Rodolico, C, S. Gibertini, Brisca, G., PEGORARO, ELENA, SANTORO, LUCIO, Grandis, M, D'AMICO, ANNA MARIA, O. Musumeci, A. D’Amico, Messina, S., M. Fanin, Vercelli, Liliana, Vercelli, L., D'Amico, A., Ruggiero, L, A. Toscano, Bruno, C., R. Massa, D. Cassandrini, FIORILLO, CHIARA, Pegoraro, E., Mora, M, L. Santoro, Cassandrini, D, F. Trucco, Ruggiero, L., Sframeli, M., C. Fiorillo, Grandis, M., M. Pane, M. Pedemonte, Mora, M., Pane, M, Rodolico, C., Petrucci, A., Bruno, C, Maggi, L, Santoro, L., D'Amico, A., Pedemonte, M, MINETTI, CARLO, Fanin, M, Bello, L, Savarese, M, Maggi, L., FANIN, MARINA, Broda, P, GRANDIS, MARINA, Pane, M., Mercuri, E., A. Petrucci, D'Amico, A, Astrea, G., Trucco, F., Tasca, G, Vita, G. L., C. Minetti, Bello, L., Fiorillo, C, Cassandrini, D., G. Brisca, F. M. Santorelli, Vita, GL, Vercelli, L, Toscano, A, Gibertini, S, G. L. Vita, C. Bruno, Santorelli, F. M., D'Amico, A, Trucco, F, RUGGIERO, LUCIA, Sframeli, M, V. Nigro, S. Messina, Minetti, C, Broda, P., Santorelli, FM, Massa, R, L. Ruggiero, L. Bello, G. Astrea, P. Broda, Gibertini, S., Savarese, M., Nigro, V, Musumeci, O., Bertini, E, Morandi, L., L. Vercelli, Pegoraro, E, Brisca, G, M. Sframeli, G. Tasca, Mongini, T., Trovato, R, Astrea, G, L. Morandi, Pedemonte, M.   +128 more
core   +4 more sources

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core   +1 more source

Corpos de inclusão citoplasmática: estudo em diversas doenças e revisão da literatura Inclusion cytoplasmic bodies: a study in several diseases and a literature review

Arquivos de Neuro-Psiquiatria, 1996
Estudamos 16 casos entre 1400 biópsias musculares que apresentavam vacúolos marginados, cujo aspecto histológico sugeria corpos de inclusão citoplasmáticos. Procuramos correlacionar os dados clínicos, laboratoriais e histopatológicos, a fim de determinar
Rosana Herminia Scola, Lineu Cesar Werneck, Célia Regina Cavichiolo Franco   +2 more
doaj   +1 more source

Neuromuscular disease: 2021 update

Free Neuropathology, 2021
This review highlights ten important advances in the neuromuscular disease field that were first reported in 2020. The overarching topics include (i) advances in understanding of fundamental neuromuscular biology; (ii) new / emerging diseases; (iii ...
Marta Margeta
doaj   +1 more source

Dominant collagen XII mutations cause a distal myopathy

Annals of Clinical and Translational Neurology, 2019
Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1.
Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann   +21 more
doaj   +1 more source

Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations

Cells, 2020
Mutations in collagen VI genes cause two major clinical myopathies, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), and the rarer myosclerosis myopathy.
Manuela Antoniel, Francesco Traina, Luciano Merlini, Davide Andrenacci, Domenico Tigani, Spartaco Santi, Vittoria Cenni, Patrizia Sabatelli, Cesare Faldini, Stefano Squarzoni   +9 more
doaj   +1 more source

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