Results 111 to 120 of about 3,329 (204)
Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family. [PDF]
Front Genet, 2022 Musa NH +12 more
europepmc +1 more source
International Journal of Medicine and Health Development, 2008 Background: The muscle diseases are frequently encountered in medical clinics in Nigeria. In many cases however they are not optimally managed. The ion channel diseases, ‘channelopathies’, are a group of muscle disorders that share a lot of clinical ...
Ikenna O Onwuekwe +2 more
doaj
A Rare Case of Becker Disease in a 7 Year Old Boy [PDF]
, 2017 Becker Disease is an autosomal recessive version of the rare congenital disorder called Myotonia Congenita. Due to the rarity of Becker Disease, the genetic and pathological basis of this disease have not been studied well and possible diagnostic methods
Arain, Fazal M. +2 more
core +1 more source
First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features. [PDF]
Appl Clin Genet, 2021 Olave-Rodriguez JA +3 more
europepmc +1 more source
Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita. [PDF]
Front Pharmacol, 2022 Altamura C +7 more
europepmc +1 more source
A Novel Mutation in the CLCN1 Gene Causing Autosomal Recessive Myotonia Congenita in Siblings. [PDF]
Ann Indian Acad Neurol, 2021 Chakravarty K, Lal V, Ray S.
europepmc +1 more source