Results 31 to 40 of about 10,028,553 (168)

Hereditary myotonia in cats associated with a new homozygous missense variant p.Ala331Pro in the muscle chloride channel ClC‐1

Journal of Veterinary Internal Medicine, 2023
Three‐related cats were evaluated for a history of short‐strided gait and temporary recumbency after startle. Neurological examination, electromyography (EMG), muscle biopsies, and a chloride voltage‐gated channel 1 (CLCN1) molecular study were performed.
Sílvia Corrêa, Roberta Martins Basso, Fabricio Moreira Cerri, José Paes deOliveira‐Filho, João Pessoa Araújo Jr, Sandra Regina Torelli, Livia Pinheiro Chagas da Cunha Salán, Maurício Oliveira Salán, Isabella Zeque Macedo, Alexandre Secorun Borges   +9 more
doaj   +1 more source

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations

Biomedicines, 2023
Myotonia congenita is a hereditary muscle disease mainly characterized by muscle hyperexcitability, which leads to a sustained burst of discharges that correlates with the magnitude and duration of involuntary aftercontractions, muscle stiffness, and ...
Oscar Brenes, Michael Pusch, Fernando Morales   +2 more
doaj   +1 more source

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review

Channels, 2022
Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1), encoding the voltage-gated chloride channel ClC-1 in skeletal muscle.
Yifan Li, Mao Li, Zhenfu Wang, Fei Yang, Hongfen Wang, Xiujuan Bai, Bo Sun, Siyu Chen, Xusheng Huang   +8 more
doaj   +1 more source

Co-Opting MBNL-Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy. [PDF]

Ann Neurol
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Carrell ST, Carrell EM, Giovenco R, Davidson BL.   +3 more
europepmc   +2 more sources

Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy. [PDF]

Eur J Neurol
Reassessment, including genetic testing, was performed in patients with a clinical diagnosis of hereditary polyneuropathy lacking genetic confirmation. A genetic or non‐genetic aetiology was identified in 44% of the patients. ABSTRACT Background Hereditary polyneuropathy is a disabling condition with a genetic aetiology.
Kodal LS, Duno M, Dysgaard T.
europepmc   +2 more sources

A novel variant in the CLCN1 gene associated with dominant myotonia congenita reduces the macroscopic chloride conductance and strongly dampens its voltage dependence

, 2020
We describe a patient presenting the symptoms of myotonia congenita with a new heterozygous missense variant in exon 9 of the CLCN1 gene (c.1010T>G, p.(Phe337Cys)). The mutation is located in the large extracellular loop between the I and J transmembrane
Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, T. Grisar, K. Stouffs, B. Lakaye, V. Seutin   +7 more
semanticscholar   +1 more source

Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia

, 2021
Introduction: Myotonic disorders are a group of diseases affecting the muscle, in different ways. Myotonic dystrophy type 1 (DM1) is related to (CTG)n expansion in the 3-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene and is ...
Cardani R., Brunori P., Comi G. P., Meola G., Locci S., Federico A., Lucchiari S., De Stefano N., Mignarri A.   +8 more
core   +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

Moroccan consanguineous family with Becker myotonia and review

Annals of Indian Academy of Neurology, 2011
Myotonia congenita is a genetic muscle disorder characterized by clinical and electrical myotonia, muscle hypertrophy, and stiffness. It is inherited as either autosomal-dominant or -recessive, known as Thomsen and Becker diseases, respectively.
Ilham Ratbi, Siham Chafai Elalaoui, Adela Escudero, Yamina Kriouile, Jesus Molano, Abdelaziz Sefiani   +5 more
doaj   +1 more source

[A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene].

Rinshō shinkeigaku Clinical neurology
A Japanese woman experienced slowness of movement in her early teens and difficulty in opening her hands during pregnancy. On admission to our hospital at 42 years of age, she showed grip myotonia with warm-up phenomenon.
Yoshitsugu Nakamura, Hidenori Sato, Kensuke Kakiuchi, Yuki Miyano, Takafumi Hosokawa, S. Arawaka   +5 more
semanticscholar   +1 more source