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Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2026

Nakajima Masanori, Naruse Hiroya, Riku Yuichi, Ueda Kunihiro, Matsukawa Takashi, Mitsui Jun, Nakamura Yoshitsugu, Ishida Shimon, Yamada Takashi, Moro Naoki, Kotsuki Naoki, Nagai Kentaro, Tokushige Shin-Ichi, Uchibori Ayumi, Oishi Chizuko, Yabata Hiroyuki, Urushitani Makoto, Iwasaki Yasushi, Ishiura Hiroyuki, Toda Tatsushi, Tsuji Shoji, Ichikawa Yaeko

Abstract excerpt

OBJECTIVES: To analyze the cases of a family with a novel in-frame duplication variant (NM_000454.5:c.357_357 + 2dup, p.Val120dup) of SOD1 and a structural model of the mutated SOD1 protein. METHODS: The clinical profiles of three patients in the family were analyzed, including the neuropathological findings of the proband's mother. Genetic analyses were conducted for three patients. cDNA and in silico structural...

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Identifiers

PMID: 41334676
DOI: 10.1080/21678421.2025.2593302

Genes

SOD1

Variants

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