Article
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.
Scientific reports - 16 Dec 2022
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
Abstract excerpt
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 patients; however, homozygotes for this variant are rare; three patients identified while 238 homozygotes are estimated...
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