Results 1 to 10 of about 8,275 (113)

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre [PDF]

BMC Pediatrics, 2022
Background Congenital myopathies are a group of rare neuromuscular diseases characterized by specific histopathological features. The relationship between the pathologies and the genetic causes is complex, and the prevalence of myopathy-causing genes ...
Yu Zhang, Hui Yan, Jieyu Liu, Huifang Yan, Yinan Ma, Cuijie Wei, Zhaoxia Wang, Hui Xiong, Xingzhi Chang   +8 more
doaj   +2 more sources

Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies [PDF]

Frontiers in Neurology, 2021
Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a cohort
Eleonora Mauri, Daniela Piga, Alessandra Govoni, Roberta Brusa, Serena Pagliarani, Michela Ripolone, Robertino Dilena, Claudia Cinnante, Monica Sciacco, Denise Cassandrini, Vincenzo Nigro, Nereo Bresolin, Nereo Bresolin, Stefania Corti, Stefania Corti, Giacomo P. Comi, Giacomo P. Comi, Francesca Magri   +17 more
doaj   +2 more sources

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies [PDF]

eLife, 2023
Skeletal muscles are a highly structured tissue responsible for movement and metabolic regulation, which can be broadly subdivided into fast and slow twitch muscles with each type expressing common as well as specific sets of proteins.
Jan Eckhardt, Alexis Ruiz, Stéphane Koenig, Maud Frieden, Hervé Meier, Alexander Schmidt, Susan Treves, Francesco Zorzato   +7 more
doaj   +2 more sources

Congenital myopathies: clinical phenotypes and new diagnostic tools [PDF]

Italian Journal of Pediatrics, 2017
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course.
Denise Cassandrini, Rosanna Trovato, Anna Rubegni, Sara Lenzi, Chiara Fiorillo, Jacopo Baldacci, Carlo Minetti, Guja Astrea, Claudio Bruno, Filippo M. Santorelli, the Italian Network on Congenital Myopathies   +10 more
doaj   +2 more sources

Congenital myopathies: pathophysiological mechanisms and promising therapies [PDF]

Journal of Translational Medicine
Congenital myopathies (CMs) are a kind of non-progressive or slow-progressive muscle diseases caused by genetic mutations, which are currently defined and categorized mainly according to their clinicopathological features.
Han Zhang, Mengyuan Chang, Daiyue Chen, Jiawen Yang, Yijie Zhang, Jiacheng Sun, Xinlei Yao, Hualin Sun, Xiaosong Gu, Meiyuan Li, Yuntian Shen, Bin Dai   +11 more
doaj   +2 more sources

Update and Review of Congenital Myopathies

Pediatric Neurology Briefs, 2009
Congenital myopathies are reviewed by neuropathology researchers in New Delhi, India, and Mainz, Germany.
J Gordon Millichap
exaly   +3 more sources

Update on Congenital Myopathies in Adulthood [PDF]

International Journal of Molecular Sciences, 2020
Constantinos Papadopoulos, Sophia Xirou, Evangelia Kararizou   +2 more
exaly   +2 more sources

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations

Indian Journal of Pathology and Microbiology, 2022
Electron microscopy (EM) has a substantial role in the diagnosis of skeletal muscle disorders. The ultrastructural changes can be observed in muscle fibers and other components of the muscle tissue. EM serves as a confirmatory tool where the diagnosis is
Rashmi Santhoshkumar, Gayathri Narayanappa   +1 more
doaj   +1 more source

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

PLoS ONE, 2021
BackgroundOur aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies.MethodsExome sequencing was performed on patients with high risk for inherited myopathy, which were ...
Ivana Babić Božović, Aleš Maver, Lea Leonardis, Marija Meznaric, Damjan Osredkar, Borut Peterlin   +5 more
doaj   +1 more source

CONVENTIONAL APPROACHES TO THE THERAPY OF HEREDITARY MYOPATHIES

Фармация и фармакология (Пятигорск), 2022
The aim of the work was to analyze the available therapeutic options for the conventional therapy of hereditary myopathies.Materials and methods. When searching for the material for writing a review article, such abstract databases as PubMed and Google ...
M. V. Pokrovsky, M. V. Korokin, A. M. Krayushkina, N. S. Zhunusov, K. N. Lapin, M. O. Soldatova, E. A. Kuzmin, O. S. Gudyrev, I. S. Kochkarova, A. V. Deikin   +9 more
doaj   +1 more source