Results 11 to 20 of about 28,319 (230)

Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination. [PDF]

J Neurol, 2020
Mensch A, Kraya T, Koester F, Müller T, Stoevesandt D, Zierz S.   +5 more
europepmc   +2 more sources

An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant

eNeurologicalSci, 2020
Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later ...
Masahiro Ohara, Yoshihiko Saito, Mutsufusa Watanabe, Saneyuki Mizutani, Masaki Kobayashi, Aritoshi Iida, Ichizo Nishino, Hiroto Fujigasaki   +7 more
doaj   +1 more source

The challenging diagnosis of dysferlinopathy – a case report [PDF]

Romanian Journal of Neurology, 2021
Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset
Claudiu Gabriel Socoliuc, Alexandra Oprisan, Amelia Dobrescu, Emilia Manole, Alexandra Eugenia Bastian   +4 more
doaj   +1 more source

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +1 more source

Aquaporin-4 expression in distal myopathy with rimmed vacuoles

BMC Neurology, 2012
Background Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy is clinically characterized by the early involvement of distal leg muscles. The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles.
Hoshi Akihiko, Yamamoto Teiji, Kikuchi Saeko, Soeda Tomoko, Shimizu Keiko, Ugawa Yoshikazu   +5 more
doaj   +1 more source

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]

, 2009
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel, Chinnery, Patrick F., Goldfarb, Lev, Lochmueller, Hanns, McNeill, Alisdair, Reilich, Peter, Schramm, Nicolai, Straub, Volker, Walter, Maggie C.   +8 more
core   +1 more source

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.
Aarli, Adams, Amyot, Barbeau, Bosch, Bray, Campanella, Cohen, Cox, Coërs, Croft, Direkze, Dutil, Fried, Fuchs, Goto, Graef von, Graf, Hartmann, Hayes, Julien, Kearns, Kiloh, Krause, Lakin, Lees, Lewis, Liversedge, Lundberg, Man, Maningand, Mater, Matsunaga, Murphy, Myrianthopoulos, Nicolaissen, Peterman, Radu, Rebeiz, Roberts, Satoyoshi, Saucier, Schmitt, Schmitt, Schotland, Schwarz, Szobar, Taylor, Victor, Zellweger   +49 more
core   +1 more source

Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

Journal of Medical Case Reports, 2012
Introduction Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene.
Neusch Clemens, Kuhlmann Tanja, Kress Wolfram, Schneider-Gold Christiane   +3 more
doaj   +1 more source

Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation [PDF]

, 2015
We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52.
Antonini, Giovanni, Bertini, E., Böhm, J., Fattori, F., Garibaldi, Matteo, Laporte, J., Laschena, F., Ottaviani, P., Romero, N.   +8 more
core   +1 more source

GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy

Annals of Clinical and Translational Neurology, 2021
Background The expansion of GGC repeat in the 5' untranslated region of the NOTCH2NLC has been associated with various neurogenerative disorders of the central nervous system and, more recently, oculopharyngodistal myopathy.
Jiaxi Yu, Xing‐hua Luan, Meng Yu, Wei Zhang, He Lv, Li Cao, Lingchao Meng, Min Zhu, Binbin Zhou, Xiao‐rong Wu, Pidong Li, Qiang Gang, Jing Liu, Xin Shi, Wei Liang, Zhirong Jia, Sheng Yao, Yun Yuan, Jianwen Deng, Daojun Hong, Zhaoxia Wang   +20 more
doaj   +1 more source