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.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Séquence nucléotidique
/
Exons
/
Canaux chlorure
/
Diagnostic
/
Génétique
/
Hétérozygote
/
Mutation
/
Myotonie congénitale
Type d'étude:
Etude diagnostique
Limites du sujet:
Adolescent
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2012
Type:
Article
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