A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient

BACKGROUND: Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to improve with repeated contractions. CASE PRESENT...

Descripción completa

Detalles Bibliográficos
Autores principales: Miao, Jing, Wei, Xiao-jing, Liu, Xue-mei, Kang, Zhi-xia, Gao, Yan-lu, Yu, Xue-fan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6151044/
https://www.ncbi.nlm.nih.gov/pubmed/30243293
http://dx.doi.org/10.1186/s12883-018-1153-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6151044/
https://www.ncbi.nlm.nih.gov/pubmed/30243293
http://dx.doi.org/10.1186/s12883-018-1153-x

Ejemplares similares