Extraocular muscle hypertrophy in myotonia congenita.
J AAPOS
; 12(3): 294-6, 2008 Jun.
Article
en En
| MEDLINE
| ID: mdl-18313341
ABSTRACT
Myotonia congenita (MC) is a rare disorder of skeletal muscle caused by mutations in the CLCN1 gene,(1,2) which encodes the chloride ion channel found in the t-tubule of skeletal muscle. MC is characterized by impaired relaxation of voluntary muscle after sudden contraction that diminishes with muscle activity, known as the "warm-up effect." Individuals with MC can develop muscular hypertrophy despite little physical activity. Esotropia and reduced saccadic velocities have been reported in the dominant form of MC. We report two cases in which orbital magnetic resonance imaging (MRI) imaging showed extraocular muscle hypertrophy.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trastornos de la Motilidad Ocular
/
Miotonía Congénita
/
Músculos Oculomotores
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
J AAPOS
Asunto de la revista:
OFTALMOLOGIA
/
PEDIATRIA
Año:
2008
Tipo del documento:
Article
País de afiliación:
Canadá