Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2

Myotonic dystrophy type 2 (DM2) is more common than DM1 in Europe and is considered a rare cause of myotonic dystrophies in Asia. Its clinical course is also milder with more phenotypic variability than DM1. We herein describe the first known Asian family (three affected siblings) with DM2 based on...

Descripción completa

Detalles Bibliográficos
Autores principales: Nakayama, Takahiro, Nakamura, Harumasa, Oya, Yasushi, Kimura, Takashi, Imahuku, Ichiro, Ohno, Kinji, Nishino, Ichizo, Abe, Koji, Matsuura, Tohru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973124/
https://www.ncbi.nlm.nih.gov/pubmed/24430576
http://dx.doi.org/10.1038/jhg.2013.133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973124/
https://www.ncbi.nlm.nih.gov/pubmed/24430576
http://dx.doi.org/10.1038/jhg.2013.133

Ejemplares similares