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Article

TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan.

Internal medicine (Tokyo, Japan) - 1 Jan 2010

Tamaoka Akira, Arai Makoto, Itokawa Masanari, Arai Tetsuaki, Hasegawa Masato, Tsuchiya Kuniaki, Takuma Hiroshi, Tsuji Hiroshi, Ishii Akiko, Watanabe Masahiko, Takahashi Yuji, Goto Jun, Tsuji Shoji, Akiyama Haruhiko

Abstract excerpt

The clinical features of a Japanese family with autosomal dominant adult-onset amyotrophic lateral sclerosis (ALS) are reported. Weakness initially affected the bulbar musculature, with later involvement of the extremities. Genetic studies failed to detect any mutations of the Cu/Zn superoxide di...

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Source

Identifiers

PMID: 20154440
DOI: 10.2169/internalmedicine.49.2915

Genes

DCTN1
SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20154440-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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