Results 31 to 40 of about 561,973 (252)

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

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population [PDF]

Eur J Hum Genet, 2017
S. Perić, J. N. Glumac, A. Töpf, D. Savić-Pavićević, L. Phillips, Katherine Johnson, M. Cassop-Thompson, Liwen Xu, M. Bertoli, M. Lek, D. MacArthur, M. Brkušanin, S. Milenkovic, V. Rašić, B. Banko, R. Maksimovic, Hanns Lochmüller, V. Stojanović, V. Straub   +18 more
semanticscholar   +2 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.
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

Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]

, 2015
Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen, Crockett, Cameron D, Gonzalez, Michael A, Grider, Tiffany, Jerath, Nivedita U, Moore, Steven A, Shy, Michael E, Swenson, Andrea, Weihl, Conrad C, Zuchner, Stephan   +9 more
core   +4 more sources

Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis

Muscle and Nerve, 2020
Nephropathic cystinosis is a lysosomal storage disorder with late‐onset systemic complications, such as myopathy and dysphagia. Currently employed outcome measures lack sensitivity and responsiveness for dysphagia and myopathy, a limitation to clinical ...
R. Sadjadi, Stacey L. Sullivan, Natalie R Grant, S. Thomas, Maya Doyle, Colleen Hammond, Camille S. Corre, N. Mello, W. David, F. Eichler   +9 more
semanticscholar   +1 more source

Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

, 2019
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria, Domínguez González, Cristina, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Hernández Laín, Aurelio, Hernández Voth, Ana R., Paradas, Carmen, Rivas, Eloy, Sayas Catalán, Javier   +9 more
core   +1 more source

Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family

Frontiers in Neurology, 2020
Myofibrillar myopathies (MFM) are a clinically and genetically heterogenous group of inherited myopathies characterized by aggregation of Z-disc proteins. Mutations in desmin account for ~7% of MFM.
Stefan Nicolau, Benjamin M. Howe, Elie Naddaf   +2 more
doaj   +1 more source

Myofibrillar Myopathy Mimicking Polyneuropathy

Case Reports in Neurology, 2020
A 76-year-old man with a 5-year history of gait difficulties was suspected to have length-dependent sensorimotor polyneuropathy. Electrodiagnostic results pointed to a foot drop of neurogenic etiology, except for the prominence of myotonic discharges on ...
Pierre R. Bourque, Ari Breiner, Jodi Warman-Chardon   +2 more
doaj   +1 more source