• Myotonia Congenita

    Who are the top experts researching treatments for myotonia congenita?

    The top experts researching myotonia congenita are: Concetta Altamura, Chris Dupont and Kuang-Ming Hsiao.

  • What are the top concepts researched in studies about myotonia congenita?

    The most researched concepts in studies of myotonia congenita are: Skeletal Muscle, Chloride Channel, Clcn1 Gene, Periodic Paralysis, Myotonic Dystrophy and Amyotrophic Lateral Sclerosis.

  • What are some of the top places that specialize in myotonia congenita?

    Recommended institutions that specialize in myotonia congenita:

    1. Spire Manchester Neurology & Neurologist ClinicSpire Manchester Hospital, 170 Barlow Moor Rd, Manchester M20 2AF, Reino Unido Phone: +441614476677
    2. Tokyo Neuro CenterJapón, 〒105-0001 Tokyo, Minato City, Toranomon, 4 Chome−1−17 神谷町プライムプレイスレジデンス 2F Phone: +81357761200
    3. Dr. Zhanna Rapoport, MD7677 Center Ave Ste 200, Huntington Beach, CA 92647 Phone: +19498923355
    4. A Y Shukla PA1601 Main St, Richmond, TX 77469 Phone: +12813411500

Recent articles about Myotonia Congenita

Open Label Trial Of Ranolazine In Myotonia Congenita, Paramyotonia Congenita, &...

[ CLINICAL_TRIAL ] ... of myotonia congenital, paramyotonia congenita, and myotonic dystrophy type 1. The duration of the study is 5 weeks. Detailed Description Recent advances in the understanding of myotonia ...
Known for
Myotonia Congenita | Myotonic Dystrophy | Drug Ranolazine | Safe Effective

Lamotrigine As Treatment Of Myotonia. Better Treatment Of Muscle Diseases.

[ CLINICAL_TRIAL ] ... 2, Myotonia Congenita, Paramyotonia Congenita, Hyperkalmisk periodic paralysis and Potassium-Aggravated myotonia. Genetically, mutations in chloride, sodium or calcium ion channels in the ...
Known for
Muscle Myotonia | Dystrophia Myotonica | Pure Channelopathies | Periodic Paralysis

A Phase Iii, Randomised, Double Blinded, Head-To-Head, Single-Site, Cross-Over...

[ CLINICAL_TRIAL ] ... of myotonia in patients with Non-Dystrophic Myotonia.Non-dystrophic Myotonia is a genetic condition for which there is no cure. It affects patients for the duration of their life and ...
Known for
Dystrophic Myotonia | Mexiletine Lamotrigine | Sodium Channel | Muscle Membrane

Efficacy And Safety Of Mexiletine In Non-Dystrophic Myotonias. Mexiletine And Non...

[ CLINICAL_TRIAL ] ... non-dystrophic myotonias are based on selective case reports, clinical experience and theoretical benefit. Presently, the most promising antimyotonic medication is mexiletine (MEX) but its ...
Known for
Dystrophic Myotonias | Mexiletine Myotonia | Theoretical Benefit | Selective Reports

Clc‐1 Mutations In Myotonia Congenita Patients: Insights Into Molecular Gating...

[ PUBLICATION ] ... cause myotonia congenita with variable phenotypes. Using patch clamp we show that F484L, located in the conducting pore, probably induces mild dominant myotonia by right-shifting the slow ...
Known for
Myotonia Congenita | Molecular Gating | Phenotype Correlation | Clc‐1 Mutations

Defective Gating And Proteostasis Of Human Clc-1 Chloride Channel: Molecular...

[ PUBLICATION ] ... disease, myotonia congenita. Most disease-causing CLCN1 mutations lead to loss-of-function phenotypes
Known for
Myotonia Congenita | Chloride Channel | Molecular Pathophysiology | Defective Gating

The Mechanism Underlying Transient Weakness In Myotonia Congenita

[ PUBLICATION ] ... recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years of study. We made intracellular recordings ...
Known for
Transient Weakness | Myotonia Congenita | Plateau Potentials | Membrane Potential

Multidisciplinary Study Of A New Clc-1 Mutation Causing Myotonia Congenita: A...

[ PUBLICATION ] ... biopsies
Known for
Clc-1 Mutation | Myotonia Congenita | Ion Channelopathies | T335n Channels

Myotonia Congenita: Novel Mutations In Clcn1 Gene

[ PUBLICATION ] ... mutatio
Known for
Myotonia Congenita | Clcn1 Gene | Autosomal Dominant | Recessive Form

Sodium Channel Slow Inactivation As A Therapeutic Target For Myotonia Congenita

[ PUBLICATION ] ... with myotonia congenita have muscle hyperexcitability due to loss-of-function mutations in the chloride channel in skeletal muscle, which causes spontaneous firing of muscle action ...
Known for
Myotonia Congenita | Slow Inactivation | Sodium Channel | Therapeutic Target


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