Associated Papers
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.
Lucchiari S et al.
Frontiers in Genetics, 2024
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
Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient.
Lucchiari S et al.
Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 2013
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.
Brugnoni R et al.
Journal of Human Genetics, 2013
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
Skálová D et al.
Plos One, 2013
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.
Ulzi G et al.
Journal of the Neurological Sciences, 2012
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