Nationwide patient registry for GNE myopathy in Japan

BACKGROUND: GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. This study aimed to (1) develop a nationwide patient registry for GNE myopathy in order to facilitate the planning of...

Descripción completa

Detalles Bibliográficos
Autores principales: Mori-Yoshimura, Madoka, Hayashi, Yukiko K, Yonemoto, Naohiro, Nakamura, Harumasa, Murata, Miho, Takeda, Shin’ichi, Nishino, Ichizo, Kimura, En
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203883/
https://www.ncbi.nlm.nih.gov/pubmed/25303967
http://dx.doi.org/10.1186/s13023-014-0150-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203883/
https://www.ncbi.nlm.nih.gov/pubmed/25303967
http://dx.doi.org/10.1186/s13023-014-0150-4

Ejemplares similares