Cargando…

A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene

BACKGROUND: Becker muscular dystrophy (BMD), a genetic disorder of X-linked recessive inheritance, typically presents with gradually progressive muscle weakness. The condition is caused by mutations of Dystrophin gene located at Xp21.2. Epilepsy is an infrequent manifestation of BMD, while cases of...

Descripción completa

Detalles Bibliográficos
Autores principales: Miao, Jing, Feng, Jia-chun, Zhu, Dan, Yu, Xue-fan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154012/
https://www.ncbi.nlm.nih.gov/pubmed/27955624
http://dx.doi.org/10.1186/s12883-016-0777-y