Results 61 to 70 of about 927 (180)

Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS)

European Journal of Neurology, Volume 32, Issue 1, January 2025.
Abstract Background Monoclonal gammopathy (MG) has been reported in association with numerous neurological disorders but the spectrum of MG‐associated myopathies remains poorly described. Objective To report a newly acquired myopathy associated with MG.
Katia Staedler, Yves Allenbach, Emmanuelle Salort‐Campana, Edoardo Malfatti, Aude Rigolet, Shahram Attarian, André Maues de Paula, Sarah Léonard‐Louis, Olivier Benveniste, Tanya Stojkovic   +9 more
wiley   +1 more source

Unmasking MEGF10 Myopathy: A Rare Cause of Sudden Respiratory Failure in a Young Adult

Case Reports in Neurological Medicine, Volume 2025, Issue 1, 2025.
Sudden respiratory insufficiency is commonly attributed to cardiopulmonary causes but may also herald underlying neuromuscular disorders. In this context, rare diseases in particular pose significant diagnostic challenges. Here, we report on a 27‐year‐old woman who presented with unexplained respiratory insufficiency, proximal muscle pain, and weakness.
Benedict Kleiser, Luise Hackenbruch, Jens Schittenhelm, Antje Bornemann, Tobias Haack, Alexander Grimm, Pascal Martin, Isabella Laura Simone   +7 more
wiley   +1 more source

Immunofluorescence microscopy of a myopathy α-Actinin is a major constituent of nemaline rods

, 1980
A biopsy of skeletal muscle taken from a child with the clinical symptoms of congenital nemaline myopathy was studied. Light and electron microscopy revealed rod-like structures within the muscle fibres, and thus confirmed the clinical diagnosis ...
Griffiths, G.W., Jockusch, B.M., Jennekens, F.G.I., Veldman, H., Oost, B.A. van   +4 more
core  

Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1)

, 2004
Nemaline myopathy has been associated with mutations in five different genes, which all encode protein components of the sarcomeric thin filaments. We report follow-up studies in two children with mutations not previously described in skeletal muscle ...
Oldfors, Anders,, Tajsharghi, Homa,, Ohlsson, M.,, Darin, N.,, Kyllerman, M.,   +4 more
core   +1 more source

Clinical course correlates poorly with muscle pathology in nemaline myopathy

, 2003
Objective: To report pathologic findings in 124 Australian and North American cases of primary nemaline myopathy. Methods: Results of 164 muscle biopsies from 124 Australian and North American patients with primary nemaline myopathy were reviewed ...
De Girolami, U, Beggs, AH, Muirhead, D, Dermett, [No Value], Schnell, C, Ilkovski, B, Shield, LK, Ryan, MM, Strickland, CD, Midgett, C, Houston, R, Iannaccone, ST, Laing, NG, North, KN, Sanoudou, D   +14 more
core  

Sudden cardiac arrest in a child with nemaline myopathy Critical Care

, 2015
Background: Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined by the presence of inclusions known as nemaline rods in muscle fibers.
Manti S., Cavallari V., Marseglia L., Gitto E., D'Angelo G., Salpietro V., Arrigo T.   +6 more
core   +1 more source

Evaluating proteasome modulation as a therapeutic strategy in nemaline myopathy [PDF]

, 2017
Nemaline myopathy is a subtype of congenital myopathy that is clinically characterized by muscle weakness and early hypotonia of variable severity. Pathologically, nemaline myopathy is characterized by the presence of nemaline rods that stain purple in ...
Wang, Jeffrey C.
core  

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rod histology

, 2015
Mutations in ACTA1 encoding for α-actin cause a clinical and histopathologically heterogeneous group of myopathies with variable degree of muscle weakness and a spectrum of muscle pathology, including nemaline rods, cores, cap-like structures, fiber type
Donkervoort, S, Bradley, N, Bönnemann, C, Chan, HSS, Nguyen, D, Moore, S, Hu, Y, Nance, J, Leach, M, Thangarajh, M, Foley, A, Reyes, C   +11 more
core   +1 more source

Sporadic Late-Onset Nemaline Rod Myopathy: An Interesting Case

Neurology India
Sporadic late-onset nemaline rod myopathy is a rare, acquired, sub-acute, adult-onset myopathy characterized by proximal muscle weakness and nemaline rods in the myofibers. In contrast to its congenital form, the prevalence in adult population is comparatively rare.
Anubhav, Narwal, Mohit, Mann, Achal K, Srivastava, Mehar C, Sharma   +3 more
openaire   +2 more sources

Linking altered structure and post‐translational modification of Troponin T to dystonia in nemaline myopathies

The Journal of Physiology, Volume 603, Issue 12, Page 3491-3492, 15 June 2025.
Damien M. Callahan
wiley   +1 more source