Results 101 to 110 of about 25,797 (180)

Diagnostic challenges in combined multiple sclerosis and centronuclear myopathy.

, 2000
The first case of combined centronuclear myopathy and multiple sclerosis is reported. The difficulties of diagnosing multiple sclerosis in patients with muscular disorders associated with the central nervous system involvement are ...
Olsen, D.B., Langkilde, Annika Reynberg, Vissing, J, Schmalbruch, H   +3 more
core   +1 more source

A clinical, histological and molecular study of centronuclear myopathy

, 2014
Introdução: A miopatia centronuclear é uma doença muscular congênita com apresentação clínica heterogênea, caracterizada histologicamente pela proeminência de fibras musculares com núcleos centralizados.
Abath Neto, Osório Lopes, Osório Lopes Abath Neto   +1 more
core   +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, Goldfarb, Lev, Lochmueller, Hanns, Walter, Maggie C., Chinnery, Patrick F., Reilich, Peter, McNeill, Alisdair, Schramm, Nicolai, Straub, Volker   +8 more
core   +1 more source

X-linked centronuclear myopathy: mapping the gene to Xq28.

, 1991
The X-linked recessive centronuclear/myotubular myopathy (XLR-CNM/MTM1), a severe neonatal disorder characterized by generalized hypotonia, muscle weakness and primary asphyxia, has recently been mapped to Xq28. This report presents linkage analysis data
Kress W, Braga S, Müller C, Müller B, Boltshauser E, Liechti-Gallati S, Moser H, Grimm T   +7 more
core   +1 more source

MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy. [PDF]

Brain, 2023
Giraud Q, Spiegelhalter C, Messaddeq N, Laporte J.   +3 more
europepmc   +1 more source

Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy. [PDF]

Neurol Genet, 2022
Hayes LH, Perdomini M, Aykanat A, Genetti CA, Paterson HL, Cowling BS, Freitag C, Beggs AH.   +7 more
europepmc   +1 more source

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

, 2007
Centronuclear myopathies are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers not secondary to regeneration.
Valérie Tosch, Oldfors, A, Toussaint, Anne, Anne Toussaint, Kingston, Helen, Garnier, J-M, Biancalana, V, Laporte, J., Carina Wallgren-Pettersson, Nicot, A. S., Oldfors, Anders,, Toussaint, A, Garnier, Jean-Marie, Biancalana, V., Tosch, Valérie, Anders Oldfors, Iwarsson, E,, Christine Kretz, Jocelyn Laporte, Iwarsson, E., Nicot, A-S, Kretz, C., Helen Kingston, Kingston, H., Wallgren-Pettersson, Carina, Oldfors, Anders, Tosch, V., Garnier, J. M., Mandel, Jean-Louis, Iwarsson, Erik, Tosch, V, Kingston, H, Nicot, Anne-Sophie, Laporte, Jocelyn, Valérie Biancalana, Erik Iwarsson, Mandel, J. L., Kretz, C, Wallgren-Pettersson, C, Toussaint, A., Kretz, Christine, Biancalana, Valérie, Jean-Marie Garnier, Anne-Sophie Nicot, Jean-Louis Mandel, Wallgren-Pettersson, C.   +45 more
core   +1 more source

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family. [PDF]

J Hum Genet, 2023
Ahmad I, Khan A, Noor Ul Ayan H, Budde B, Altmüller J, Korejo AA, Nürnberg G, Thiele H, Tariq M, Nürnberg P, Erdmann J.   +10 more
europepmc   +1 more source

Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca²⁺-Induced Exocytosis in Human Myoblasts. [PDF]

Int J Mol Sci, 2022
Bayonés L, Guerra-Fernández MJ, Hinostroza F, Báez-Matus X, Vásquez-Navarrete J, Gallo LI, Parra S, Martínez AD, González-Jamett A, Marengo FD, Cárdenas AM.   +10 more
europepmc   +1 more source

Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1 -Related Congenital Centronuclear Myopathy. [PDF]

J Pediatr Genet, 2023
Singanamalla B, Kesavan S, Aggarwal D, Chatterjee D, Urtizberea A, Suthar R.   +5 more
europepmc   +1 more source