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Article

Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods.

Neuromuscular disorders : NMD - 1 Aug 2003

Schröder R, Reimann J, Salmikangas P, Clemen C S, Hayashi Y K, Nonaka I, Arahata K, Carpén O

Abstract excerpt

Myotilin is a Z-disc protein that binds alpha-actinin, gamma-filamin and F-actin. The essential role of myotilin in skeletal muscle is highlighted by the recent observation that autosomal dominant limb girdle muscular dystrophy type 1A is caused by mutations in the human myotilin gene. We studied the expression and subcellular distribution of myotilin in nemaline myopathy, central core disease, centronuclear...

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Identifiers

PMID: 12899871
DOI: 10.1016/s0960-8966(03)00064-6

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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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