Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 690-692, 2012.
Artículo
en Chino
| WPRIM
| ID: wpr-232230
ABSTRACT
<p><b>OBJECTIVE</b>To investigate chloride channel 1 (CLCN1) gene mutation and clinical features of 2 Chinese patients with myotonia congenita.</p><p><b>METHODS</b>Clinical data of a patient from a family affected with myotonia congenita in addition with a sporadic patient from Fujian province were analyzed. Exons of CLCN1 gene were amplified and sequenced.</p><p><b>RESULTS</b>The proband from the affected family was found to carry a c.1024G>A heterozygous missense mutation in exon 8, whilst the sporadic patient has carried a c.1292C>T heterozygous missense mutation in exon 11.</p><p><b>CONCLUSION</b>Detection of CLCN1 gene mutation is an effective method for the diagnosis of myotonia congenita. Exon 8 of CLCN1 gene may be a mutational hotspot in Chinese patients with myotonia congenita.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Secuencia de Bases
/
Exones
/
Canales de Cloruro
/
Diagnóstico
/
Genética
/
Heterocigoto
/
Mutación
/
Miotonía Congénita
Tipo de estudio:
Estudio diagnóstico
Límite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2012
Tipo del documento:
Artículo
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