Publication details
Souběžný výskyt mutace v genu ZNF9 (MD2) a v genu chloridového kanálu (myotoinia congenita) v jedné rodině
| Title in English | Co-occurrence of mutations in the gene ZNF9 (myotonic dystrophy type 2) and in the gene CLCN1 (myotonia congenita) in one family |
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| Authors | |
| Year of publication | 2013 |
| Type | Article in Periodical |
| Magazine / Source | CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE |
| MU Faculty or unit | |
| Citation | |
| Web | http://www.csnn.eu/ceska-slovenska-neurologie-clanek/soubezny-vyskyt-mutace-v-genu-znf9-myotonicka-dystrofie-typu-2-a-v-genu-clcn1-myotonia-congenita-v-jedne-rodine-41407?confirm_rules=1 |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | myotonia myotonic dystrophy congenital myotonia molecular genetics |
| Attached files | |
| Description | We present a rare case report of a patient with trouble with decontraction since 33 years. The objective neurological finding includes mild pelvic girdle muscle weakness, significant action myotonia, percussion myotonia and positive warm-up phenomenon. Molecular genetic testing confirmed myotonic dystrophy type 2 with the expansion on both alleles of gene ZNF9, homozygous state was supported by examination of ancestors and their relatives. Concurrently the patient is a carrier of a mutation in the semidominate gene CLCN1, that she obtained from her mother, carriers of heterozygous mutations in the gene ZNF9. Homozygous state for expansion autosomal dominant gene mutations (myotonic dystrophy) generally does not lead to more severe phenotype, this condition is probably due by concurrent mutations in chloride channel. |