Results 11 to 20 of about 31,110 (115)

Role of Myofibrillar Protein Catabolism in Development of Glucocorticoid Myopathy: Aging and Functional Activity Aspects

Metabolites, 2016
Muscle weakness in corticosteroid myopathy is mainly the result of the destruction and atrophy of the myofibrillar compartment of fast-twitch muscle fibers.
Teet Seene, Priit Kaasik
doaj   +2 more sources

BAG3-related myofibrillar myopathy: focus on its cardiac involvement [PDF]

Frontiers in Genetics
Myofibrillar myopathy is a cause of rare and severe pediatric cardiomyopathies. Few descriptions of patients carrying the rare p. Pro209Leu variant in BAG3 and presenting with myofibrillar myopathy are reported in the literature.
Elise Daire, Elena Panaioli, Cyril Gitiaux, Catherine Gardin, Victor Waldmann, Damien Bonnet, Damien Bonnet, Karim Wahbi, Karim Wahbi, Diala Khraiche   +9 more
doaj   +2 more sources

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

Mutations in the alpha B-crystallin (CRYAB) gene, encoding a small heat shock protein with chaperone function, are a rare cause of myofibrillar myopathy with autosomal-dominant inheritance, late-onset and moderate severity.
Bushby K, Jungbluth H, Forrest KML, Tan SV, Al-Sarraj S, Durward A, Barresi R, Pitt M, Wraige E, Matthews E, Sewry C, Irving M, Hanna MG, Buk S, Sarkozyi A, McDougall M, Hudson J   +16 more
core   +5 more sources

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

Acta Neuropathologica Communications, 2021
Mutations in the DNAJB6 gene have been identified as rare causes of myofibrillar myopathies. However, the underlying pathophysiologica mechanisms remain elusive.
Fang-Yuan Qian, Yu-Dong Guo, Juan Zu, Jin-Hua Zhang, Yi-Ming Zheng, Idriss Ali Abdoulaye, Zhao-Hui Pan, Chun-Ming Xie, Han-Chao Gao, Zhi-Jun Zhang   +9 more
doaj   +1 more source

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

Frontiers in Neurology, 2018
ObjectiveThe aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on ...
Zhiyv Niu, Zhiyv Niu, Carly Sabine Pontifex, Carly Sabine Pontifex, Sarah Berini, Leslie E. Hamilton, Elie Naddaf, Eric Wieben, Ross A. Aleff, Kristina Martens, Kristina Martens, Angela Gruber, Andrew G. Engel, Gerald Pfeffer, Gerald Pfeffer, Margherita Milone   +15 more
doaj   +1 more source

Biochemical and Physicochemical Changes in Spaghetti Meat During Refrigerated Storage of Chicken Breast

Frontiers in Physiology, 2022
This study investigated postmortem muscle protein degradation and myowater properties in broiler breasts afflicted with the Spaghetti Meat (SM) myopathy during 7 days of storage.
Giulia Tasoniero, Hong Zhuang, Brian Bowker   +2 more
doaj   +1 more source

Effect of spaghetti meat abnormality on broiler chicken breast meat composition and technological quality1

Poultry Science, 2020
The effects of spaghetti meat (SM) myopathy and sampling location on chicken breast meat physical traits, composition, and protein functionality were investigated using 30 normal (N) and 30 SM boneless fillets.
Giulia Tasoniero, Hong Zhuang, Gary R. Gamble, Brian C. Bowker   +3 more
doaj   +1 more source

Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient

Frontiers in Genetics, 2022
DNAJB6 was identified as the causative gene of limb-girdle muscular dystrophy type 1D. In recent years, the phenotypic and molecular spectrum of DNAJB6-myopathy has been expanded, and several mutations of DNAJB6 have been identified in Europe, North ...
Guang Ji, Guang Ji, Ning Wang, Ning Wang, Xu Han, Xu Han, Yaye Wang, Yaye Wang, Jinru Zhang, Jinru Zhang, Yue Wu, Yue Wu, Hongran Wu, Hongran Wu, Shaojuan Ma, Shaojuan Ma, Xueqin Song, Xueqin Song   +17 more
doaj   +1 more source

Restrictive cardiomyopathy: difficulties desminopathy diagnostics

Российский кардиологический журнал, 2019
The article provides a brief overview of the problems of diagnostics and etiological verification of restrictive cardiomyopathy (RCMP). Multiple causes lead to the restrictive phenotype of intracardiac hemodynamics and diastolic dysfunction of the heart:
T. G. Vaikhanskaya, T. M. Kaptsiukh, T. V. Kurushko, L. N. Sivitskaya, O. D. Liaudanski, N. G. Danilenko   +5 more
doaj   +1 more source

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

PLoS ONE, 2011
Mutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease.
Gianina Ravenscroft, Connie Jackaman, Caroline A Sewry, Elyshia McNamara, Sarah E Squire, Allyson C Potter, John Papadimitriou, Lisa M Griffiths, Anthony J Bakker, Kay E Davies, Nigel G Laing, Kristen J Nowak   +11 more
doaj   +1 more source