Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy

PURPOSE: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive neuromuscular disorder characterized by early adult-onset weakness of the distal muscles of the lower limbs. The clinical spectrum of GNE myopathy varies, and it is not clear how the s...

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Detalles Bibliográficos
Autores principales: Sim, Jae Eun, Park, Hyung-Jun, Shin, Ha Young, Nam, Tai-Seung, Kim, Seung Min, Choi, Young-Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2013
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3635652/
https://www.ncbi.nlm.nih.gov/pubmed/23549799
http://dx.doi.org/10.3349/ymj.2013.54.3.578

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3635652/
https://www.ncbi.nlm.nih.gov/pubmed/23549799
http://dx.doi.org/10.3349/ymj.2013.54.3.578

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