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Article

Myofibrillar myopathy: towards a mechanism-based definition as a Z-disk-opathy.

Current opinion in neurology - 1 Oct 2025

Inoue Michio, Weihl Conrad C

Abstract excerpt

PURPOSE OF REVIEW: Myofibrillar myopathies (MFMs) are traditionally defined by histopathology, but recent genetic discoveries have broadened the spectrum of causative genes beyond Z-disk components. This review aims to address the resulting terminological inconsistency by proposing a refined, mechanism-based definition of MFM centered on its identity as a "Z-disk-opathy." This re-evaluation is timely and relevant...

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Muscle Proteins
Mutation
Myofibrils
Myopathies, Structural, Congenital
Sarcomeres

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PMID: 40488240
DOI: 10.1097/WCO.0000000000001397
PMCID: PMC12354002

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