Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
Muscle Nerve
; 45(2): 279-83, 2012 Feb.
Article
en En
| MEDLINE
| ID: mdl-22246887
ABSTRACT
We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote carriers show any sign of myotonia on clinical evaluation or electromyography. These findings confirm the autosomal recessive inheritance of the novel mutation in this family, as well as the occurrence of phenotypic variability in the autosomal recessive forms of myotonia.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Canales de Cloruro
/
Codón sin Sentido
/
Miotonía
/
Miotonía Congénita
Tipo de estudio:
Risk_factors_studies
Límite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Muscle Nerve
Año:
2012
Tipo del documento:
Article
País de afiliación:
Brasil