Myotonia Congenita
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Last Posted: Mar 04, 2023
- Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Milla Carmen Palma, et al. Journal of genetics 2019 0 - Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.
Meng Yan-Xin, et al. Medicine 2022 0 (29) e29591 - Evaluation of Cases with Myotonia Congenita for Cardiovascular Risk.
Damar Ibrahim Halil, et al. Medeniyet medical journal 2020 0 (4) 374-379 - Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.
Modoni Anna, et al. Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 2011 0 (1) 39-44 - Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
Orlov Igor E, et al. European journal of medical genetics 2022 0 (2) 104426 - Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).
Coote David J et al. European journal of human genetics : EJHG 2018 Apr - Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.
Wang Hong-Xia, et al. Chinese medical journal 0 0 (9) 1017-1021 - SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
Bissay Véronique, et al. European journal of human genetics : EJHG 2015 6 - Myotonia congenita
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- Page last reviewed:Feb 1, 2024
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