Publication details
Vrozená myotonie na podkladě mutací v genu pro chloridový kanál
| Title in English | Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene |
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| Authors | |
| Year of publication | 2011 |
| Type | Article in Periodical |
| Magazine / Source | Česká a slovenská neurologie a neurochirurgie |
| MU Faculty or unit | |
| Citation | |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | myotonia congenita; CLCN1; channelopathy |
| Description | Congenital myotonia is caused by mutations in the CLCN1 chloride channel gene. It can be inherited as either an autosomal dominant (Thomsens myotonia) or a recessive (Beckers myotonia) trait. During 2008–2010, mutations in the chloride channel were found in 7 patients with myotonia, making it the third most frequent cause of myotonia in our records (54 patients with type 2 myotonic dystrophy, 18 with type 1 myotonic dystrophy, and 4 suffering from mutations in the sodium channel). All persons revealed hypertrophic muscles, worsening in cold was found in six cases, and no patients have post-exercise weakness. The semi-dominant mutation p.Arg894X was found most frequently: 5 times among a possible 13 mutations. The recessive mutation p.Pro480HisfsX24 was disclosed three times and p.Phe413Cys twice. All the cases but one are sporadic, thus the majority of patients in our population have Beckers form of myotonia congenita. |