Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

GNE myopathy is a distal myopathy caused by biallelic variants in GNE, which encodes a protein involved in sialic acid biosynthesis. Compound heterozygosity of the second most frequent variant among Japanese GNE myopathy patients, GNE c.620A>T encoding p.D207V, occurs in the expected number of pa...

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Detalles Bibliográficos
Autores principales: Yoshioka, Wakako, Iida, Aritoshi, Sonehara, Kyuto, Yamamoto, Kazuki, Oya, Yasushi, Mori-Yoshimura, Madoka, Kurashige, Takashi, Okubo, Mariko, Ogawa, Megumu, Matsuda, Fumihiko, Higasa, Koichiro, Hayashi, Shinichiro, Nakamura, Harumasa, Sekijima, Masakazu, Okada, Yukinori, Noguchi, Satoru, Nishino, Ichizo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9758176/
https://www.ncbi.nlm.nih.gov/pubmed/36526893
http://dx.doi.org/10.1038/s41598-022-26419-0

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