GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist. A large number of mutations in GNE are pathogenic and this clinical phenotype can be diffic...

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Detalles Bibliográficos
Autores principales: Soule, Tyler, Phan, Cecile, White, Chris, Resch, Lothar, Lacson, Atilano, Martens, Kristina, Pfeffer, Gerald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236015/
https://www.ncbi.nlm.nih.gov/pubmed/30467490
http://dx.doi.org/10.3389/fneur.2018.00942

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236015/
https://www.ncbi.nlm.nih.gov/pubmed/30467490
http://dx.doi.org/10.3389/fneur.2018.00942

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