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Analysis of CLCN1 gene mutations in a family affected with myotonia congenita / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 400-402, 2018.
Artigo em Chinês | WPRIM | ID: wpr-688226
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations of chloride channel l (CLCN1) gene in a family affected with myotonia congenita.</p><p><b>METHODS</b>Clinical data of the proband and her parents and brother was collected. The coding regions of the CLCN1 gene were subjected to PCR and Sanger sequencing.</p><p><b>RESULTS</b>Two missense mutations (c.937G>A and c.1205C>T), which were respectively located within exons 8 and 11 of the CLCN1 gene, were identified in the proband. The mother and father of the proband were found to harbor the c.937G>A and c.1205C>T mutation, respectively, whilst neither mutation was found in her brother.</p><p><b>CONCLUSION</b>The novel missense CLCN1 mutations probably underlie the disease in this family. These have enriched the spectrum of CLCN1 mutations and may facilitate further research on this disorder.</p>
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2018 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2018 Tipo de documento: Artigo