Author

Ichizo Nishino

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Open access Sep 2026

Inclusion-Body Myopathy with Paget Disease of the Bone and Frontotemporal Dementia (IBMPFD) with SCN4A Mutation: Modifying Factor or Not?

A 56-year-old man with a family history of myopathy developed generalized muscle weakness at age 45. At age 52, he was diagnosed with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD), confirmed by muscle pathology and a pathogenic VCP mutation (c.464G>A, p.R155H). Concurrent testi...

Sekai Tsujimoto, Koji Hayashi, Mamiko Sato et al. · Diagnostics · 0 citations

Open access Aug 2026

MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1

It is shown that muscle stem cells are activated and fuse with existing muscle fibres in myotonic dystrophy type 1, producing centrally located nuclei with altered gene-expression states and reshaping diseased muscle.

Vanessa Todorow, X. Lornage, Shinichiro Hayashi et al. · Nature Communications · 0 citations