What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
Neurology
; 70(1): 50-3, 2008 Jan 01.
Article
en En
| MEDLINE
| ID: mdl-18166706
ABSTRACT
OBJECTIVE:
To study the clinical and genetic features in a large cohort of UK patients with sodium channel paramyotonia congenita.METHODS:
We conducted a UK-wide clinical and molecular genetic study of patients presenting with a phenotype suggestive of paramyotonia congenita.RESULTS:
We identified 42 affected individuals (28 kindreds). All cases met our core criteria for a clinical diagnosis of paramyotonia congenita. Seventy-five percent of patients (32 patients/20 kindreds) had SCN4A mutations. Twenty-nine subjects from 18 kindreds had exon 22 and 24 mutations, confirming these exons to be hot spots. Unexpectedly, 3 of these subjects harbored mutations previously described with potassium-aggravated myotonia (G1306A, G1306E). We identified two new mutations (R1448L and L1436P). Ten cases (8 kindreds) without mutations exhibited paramyotonia congenita with prominent pain and weakness.CONCLUSIONS:
This study identifies two new mutations, confirms SCN4A as a common cause of paramyotonia congenita in the UK, and suggests further allelic and possibly genetic heterogeneity.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Canales de Sodio
/
Trastornos Miotónicos
/
Mutación
Tipo de estudio:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Neurology
Año:
2008
Tipo del documento:
Article
País de afiliación:
Reino Unido