ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations
Myotonia congenita is a hereditary muscle disease mainly characterized by muscle
hyperexcitability, which leads to a sustained burst of discharges that correlates with the …
hyperexcitability, which leads to a sustained burst of discharges that correlates with the …
Muscle channelopathies
V Vivekanandam, D Jayaseelan, MG Hanna - Handbook of clinical …, 2023 - Elsevier
Muscle channelopathies encompass a wide range of mainly episodic conditions that are
characterized by muscle stiffness and weakness. The myotonic conditions, characterized …
characterized by muscle stiffness and weakness. The myotonic conditions, characterized …
Hereditary myotonia in cats associated with a new homozygous missense variant p. Ala331Pro in the muscle chloride channel ClC‐1
Three‐related cats were evaluated for a history of short‐strided gait and temporary
recumbency after startle. Neurological examination, electromyography (EMG), muscle …
recumbency after startle. Neurological examination, electromyography (EMG), muscle …
Structural basis of pH-dependent activation in a CLC transporter
CLCs are dimeric membrane chloride channels and anion/proton exchangers regulating
processes such as muscle contraction and endo-lysosome acidification. Their activity is …
processes such as muscle contraction and endo-lysosome acidification. Their activity is …
[HTML][HTML] A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
C Woelfel, K Meurs, S Friedenberg… - Journal of veterinary …, 2022 - ncbi.nlm.nih.gov
Abstract Case Description: A 10-month-old castrated male domestic longhair cat was
evaluated for increasing frequency of episodic limb rigidity. Clinical Findings: The cat …
evaluated for increasing frequency of episodic limb rigidity. Clinical Findings: The cat …
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1: c. 501C> G variant as a genetic modifier
NM Marinakis, M Svingou, GK Papadimas… - Muscle & …, 2024 - Wiley Online Library
Abstract Introduction/Aims Myotonia congenita (MC) is the most common hereditary
channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as …
channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as …
Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients
Abstract Background Myotonia Congenita (MC) is a rare disease classified into two major
forms; Thomsen and Becker disease caused by mutations in the CLCN1 gene, which affects …
forms; Thomsen and Becker disease caused by mutations in the CLCN1 gene, which affects …
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing
V Vivekanandam, R Jaibaji, R Sud, R Ellmers… - Neuromuscular …, 2023 - Elsevier
We provide an up-to-date and accurate minimum point prevalence of genetically defined
skeletal muscle channelopathies which is important for understanding the population …
skeletal muscle channelopathies which is important for understanding the population …
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
W Radziwonik-Fraczyk, E Elert-Dobkowska… - Neurogenetics, 2024 - Springer
Neuromuscular disorders (NMDs) include a wide range of diseases affecting the peripheral
nervous system. The genetic diagnoses are increasingly obtained with using the next …
nervous system. The genetic diagnoses are increasingly obtained with using the next …
The spectrum of hereditary neuromuscular disorders in the Pakistani population
Hereditary neuromuscular disorders (NMDs) are a broad group of clinically heterogeneous
disorders with varying inheritance patterns, that are associated with over 500 implicated …
disorders with varying inheritance patterns, that are associated with over 500 implicated …