Results 21 to 30 of about 12,800 (285)

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

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

Orphanet Journal of Rare Diseases, 2022
Background Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac ...
Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt, J. A. Mayr   +9 more
doaj   +1 more source

Treatment of severe equinovarus deformity associated with distal myopathy

Foot & Ankle Surgery: Techniques, Reports & Cases, 2023
Inclusion body myopathy (IBM) is a form of distal myopathy which is characterized by progressive muscle weakness and wasting.1 A healthy 23-year-old male with unremarkable past medical history presented with left ankle pain and contracture of ...
Caleb Thomas, DPM, Assal Nour Ziai, DPM, FACFAS, Ellianne M. Nasser, DPM, CWS, FACFAS   +2 more
doaj   +1 more source

Inclusion body myositis: therapeutic approaches. [PDF]

, 2012
The idiopathic inflammatory myopathies are a heterogeneous group of diseases that include dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) and other less common myopathies.
Aggarwal, Rohit, Oddis, Chester V
core   +1 more source

Biobank of Cells, Tissues and DNA from Patients with Neuromuscular Diseases: An Indispensable link between Clinical Centers and the Scientific Community

Open Journal of Bioresources, 2017
The Biobank was established in 1986 as part of the routine diagnostic activity of the Division of Neuromuscular Diseases and Neuroimmunology, of the Carlo Besta Neurological Institute.
Marina Mora, Cinzia Bragato, Sara Gibertini, Simona Zanotti, Maurizio Curcio, Eleonora Canioni, Franco Salerno, Flavia Blasevich, Simona Saredi, Alessandra Ruggieri, Maria Barbara Pasanisi, Pia Bernasconi, Lorenzo Maggi, Renato Mantegazza, Francesca Andreetta   +14 more
doaj   +1 more source

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

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

The action of obestatin in skeletal muscle repair: stem cell expansion, muscle growth, and microenvironment remodeling [PDF]

, 2015
The development of therapeutic strategies for skeletal muscle diseases, such as physical injuries and myopathies, depends on the knowledge of regulatory signals that control the myogenic process. The obestatin/GPR39 system operates as an autocrine signal
ADAMO, Sergio, C. S. Mosteiro, D. l. Beiroa, F. F. Casanueva, I. Santos Zas, J. E. Viñuela, J. González Sánchez, J. M. Renaud, J. P. Camiña, J. Señarís, MORESI, Viviana, R. Gallego, R. Nogueiras, T. García Caballero, U. Gurriarán Rodríguez, W. Lin, Y. Pazos   +16 more
core   +1 more source