Results 71 to 80 of about 2,332 (142)

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

Clinical Genetics, Volume 108, Issue 6, Page 678-683, December 2025.
We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová, Johana Kopčilová, Kamila Réblová, Magdaléna Soukup Vodičková, Martina Hujňáková, Jana Haberlová, Marie Rohlenová, Radim Mazanec, Jana Šoukalová, Renata Gaillyová, Emílie Vyhnálková, Miroslava Balaščaková, Pavlína Danhofer, Lenka Juříková, Dagmar Grečmalová, Andrea Gřegořová, Pavlína Plevová, Martina Langová, Tomáš Honzík, Martin Magner, Martina Klincová, Pavla Solařová, Mária Šenkeříková, Lenka Fajkusová   +26 more
wiley   +1 more source

Paralysis Periodica Paramyotonica Caused by Scn4a Arg1448cys Mutation

, 2009
Paralysis periodica paramyotonica is an overlapping disease that shares the features of paramyotonia characteristic of paramyotonia congenita (PC) and periodic paralysis characteristic of hyperkalemic periodic paralysis.
HSU, WEI-CHIH;LAI, LING-PING;YEH, JIANN-HORNG, 許維志;賴凌平;葉建宏   +1 more
core  

OXPHOS complex deficiency in congenital myopathy: A systematic review

European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.
This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez, Maryke Schoonen, Monray E. Williams, Michelle Bisschoff, Francois H. van der Westhuizen   +4 more
wiley   +1 more source

SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review

Frontiers in Neurology, 2019
Objective: To investigate the clinical features, skeletal muscle imaging, and muscle pathological characteristics of normokalemic periodic paralysis (NormoKPP) caused by mutation of SCN4A gene p.R675Q.Methods: The clinical data, skeletal muscle imaging ...
Jiejing Shi, Qianqian Qu, Haiyan Liu, Wenhao Cui, Yan Zhang, Haidong Lv, Zuneng Lu   +6 more
doaj   +1 more source

Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis

The Journal of Physiology, Volume 603, Issue 22, Page 6949-6977, November 15, 2025.
Abstract figure legend Intrafusal muscles contained within muscle spindles are endowed with ryanodie receptor 1 (RyR1) calcium channels and participate in proprioceptor function. Mutations in RyR1 linked to severe RYR1‐congenital myopathies affect calcium release from both extrafusal as well as intrafusal muscles.
Alexis Ruiz, Sofia Benucci, Hervé Meier, Georg Schultz, Katarzyna Buczak, Christoph Handschin, Rodrigo C. G. Pena, Susan Treves, Francesco Zorzato   +8 more
wiley   +1 more source

Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature

Frontiers in Neurology, 2018
Skeletal muscle sodium channelopathies are a group of neuromuscular disorders associated with mutations in the SCN4A gene. Because principal sodium channel isoforms expressed in the skeletal muscles and the heart are distinct one from the other, this ...
Michele Cavalli, Barbara Fossati, Raffaele Vitale, Elisa Brigonzi, Vito A. G. Ricigliano, Lorenzo Saraceno, Rosanna Cardani, Carlo Pappone, Giovanni Meola, Giovanni Meola   +9 more
doaj   +1 more source

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

Annals of Clinical and Translational Neurology, Volume 12, Issue 10, Page 2056-2067, October 2025.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
wiley   +1 more source

Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 2; peer review: 2 approved]

Wellcome Open Research, 2020
Brief resolved unexplained events (BRUEs) have numerous and varied causes posing a challenge to investigation and management. A subset of infants with the neuromuscular disorder sodium channel myotonia, due to mutations in the SCN4A gene, experience ...
Gabriel Cea, Daniel Andreu, Elaine Fletcher, Sithara Ramdas, Richa Sud, Michael G. Hanna, Emma Matthews   +6 more
doaj   +1 more source

Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene [PDF]

, 2012
Background/Aims To determine the genetic basis of myotonia congenita (MC) and strabismus in a large Caucasian family. Methods Seven patients making up four generations of a family with MC and strabismus were recruited.
S R Grob, K Zhang, Lee, J, Du, H., K Schaf, Y Duan, El-Sahn, M, Shaw, P., L Zhao, G Hughes, Luo, J., Schaf, K., Quach, J., Hughes, G, Lee, J., M El-Sahn, Schaf, K, X Wei, P Shaw, Grob, S. R., Duan, Y, Granet, D., Luo, J, Hughes, G., H Du, Grob, SR, Zhao, L, El-Sahn, M., D Granet, J Luo, J Lee, Quach, J, Duan, Y., Wei, X., Du, H, J Quach, Zhang, K., Zhao, L., Shaw, P, Wei, X, Zhang, K, Granet, D   +41 more
core   +1 more source

Construction of a Prognostic Model for Hepatocellular Carcinoma Based on Macrophage Polarization-Related Genes

Journal of Hepatocellular Carcinoma
Han Chen,1,2 Jianhao Li,1,2 Dan Cao,1,2 Hong Tang1,2 1Center of Infectious Diseases, West China Hospital of Sichuan University, Chengdu, 610041, People’s Republic of China; 2Division of Infectious Diseases, State Key Laboratory of Biotherapy and Center ...
Chen H, Li J, Cao D, Tang H
doaj