Results 21 to 30 of about 2,450 (192)

A novel mutation in CLCN1 associated with feline myotonia congenita. [PDF]

PLoS ONE, 2014
Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000.
Barbara Gandolfi, Rob J Daniel, Dennis P O'Brien, Ling T Guo, Melanie D Youngs, Stacey B Leach, Boyd R Jones, G Diane Shelton, Leslie A Lyons   +8 more
doaj   +2 more sources

Autosomal recessive myotonia congenita in sheep

Genetics Selection Evolution, 1997
Sponenberg DP, Dyer RM, Dyer KR, Moore GA   +3 more
exaly   +3 more sources

Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia [PDF]

Journal of Movement Disorders, 2018
Aryun Kim, Mihee Jang, Han-Joon Kim, Yoon Kim, Dae-Seong Kim, Jin-Hong Shin, Beomseok Jeon   +6 more
doaj   +2 more sources

Becker congenital myotonia in black African with molecular findings

Egyptian Journal of Medical Human Genetics, 2022
Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
Simon Azonbakin, Diane Adovoekpe, Marius Adjagba, Jules Alao, Gratien Sagbo, Constant Adjien, Anatole Laleye   +6 more
doaj   +1 more source

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia

Frontiers in Neurology, 2022
IntroductionNon-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by CLCN1 or SCN4A mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort.MethodsWe reviewed ...
Quanquan Wang, Quanquan Wang, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Jing Hu   +6 more
doaj   +1 more source

Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis [PDF]

Chinese Medical Journal, 2018
Yang-Qi Xu, Xiao-Li Liu, Xiao-Jun Huang, Wo-Tu Tian, Hui-Dong Tang, Li Cao   +5 more
doaj   +2 more sources

Myotonia Congenita: Case Report of Becker's Variant

Boğaziçi Tıp Dergisi, 2022
Myotonia is a finding caused by muscle hyperexcitability and occurs as a result of delayed relaxation. The two disease groups in which myotonia is seen are myotonic dystrophy from muscular dystrophies and non-dystrophic myotonias from muscle ion channel ...
Okan Akşahin, Mehmet Güney Şenol
doaj   +1 more source

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

Frontiers in Neurology, 2022
Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy. Mutations in CLCN1 lead to either the autosomal dominant form or the recessive form of myotonia congenita (MC).
Serena Pagliarani, Giovanni Meola, Giovanni Meola, Melania Filareti, Giacomo Pietro Comi, Sabrina Lucchiari   +5 more
doaj   +1 more source

Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos

Arquivos de Neuro-Psiquiatria, 1995
We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans.
Umbertina C. Reed, Suely K. Nagahashi Marie, Mario Wilson I. Brotto, Carlos Alberto Martinez, Paulo E. Marchiori, Aron Diament, José Antonio Levy   +6 more
doaj   +1 more source

Open-label trial of ranolazine for the treatment of myotonia congenita. [PDF]

Neurology, 2017
Objective: To determine open-label, pilot study whether ranolazine could improve signs and symptoms of myotonia and muscle stiffness in patients with myotonia congenita (MC). Methods: Thirteen participants were assessed at baseline and 2, 4, and 5 weeks.
Arnold WD, Kline D, Sanderson A, Hawash AA, Bartlett A, Novak KR, Rich MM, Kissel JT.   +7 more
europepmc   +2 more sources