Associated Papers
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
37892996 (PubMed )
Supplement: biomedicines-11-02622-s001.zip › Supplementary_Table_S1_ClC-1_Brenes-Pusch-Morales.xlsx › Hoja1
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.
Mazón MJ et al.
Neuromuscular Disorders : Nmd, 2012
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E
Muscle & Nerve, 2005
Involvement of helices at the dimer interface in ClC-1 common gating.
Duffield M et al.
The Journal of General Physiology, 2003
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
Pusch M
Human Mutation, 2002
A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.
Sasaki R et al.
Muscle & Nerve, 2001
Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families.
de Diego C et al.
Journal of Neurology, 1999
Myotonia in ion channel diseases of muscle.
Partanen J et al.
Duodecim; Laaketieteellinen Aikakauskirja, 0
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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