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Article

Mutations in myotilin cause myofibrillar myopathy.

Neurology - 27 Apr 2004

Selcen Duygu, Engel Andrew G

Abstract excerpt

BACKGROUND AND OBJECTIVE: The term myofibrillar myopathy (MFM) is a noncommittal term for a pathologic pattern of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins. Ultrastructural studies implicate the Z-disk as the site of the initial pathologic change, and mutations in two Z-disk-related proteins, desmin and alphaB-crystallin,...

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Source

Identifiers

PMID: 15111675
DOI: 10.1212/01.wnl.0000123576.74801.75

Genes

MYOT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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