A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
Neuromuscul Disord
; 22(4): 361-7, 2012 Apr.
Article
em En
| MEDLINE
| ID: mdl-22197188
ABSTRACT
A 7-month-old New Forest foal presented for episodes of recumbency and stiffness with myotonic discharges on electromyography. The observed phenotype resembled congenital myotonia caused by CLCN1 mutations in goats and humans. Mutation of the CLCN1 gene was considered as possible cause and mutation analysis was performed. The affected foal was homozygous for a missense mutation (c.1775A>C, p.D592A) located in a well conserved domain of the CLCN1 gene. The mutation showed a recessive mode of inheritance within the reported pony family. Therefore, this CLCN1 polymorphism is considered to be a possible cause of congenital myotonia.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Canais de Cloreto
/
Mutação de Sentido Incorreto
/
Doenças dos Cavalos
/
Miotonia Congênita
Tipo de estudo:
Diagnostic_studies
Limite:
Animals
Idioma:
En
Revista:
Neuromuscul Disord
Ano de publicação:
2012
Tipo de documento:
Article