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Article

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

Journal of neuropathology and experimental neurology - 1 Sept 2008

Ilkovski Biljana, Mokbel Nancy, Lewis Raymond A, Walker Kendall, Nowak Kristen J, Domazetovska Ana, Laing Nigel G, Fowler Velia M, North Kathryn N, Cooper Sandra T

Abstract excerpt

The mechanism of muscle weakness was investigated in an Australian family with an M9R mutation in TPM3 (alpha-tropomyosin(slow)). Detailed protein analyses of 5 muscle samples from 2 patients showed that nemaline bodies are restricted to atrophied Type 1 (slow) fibers in which the TPM3 gene is expressed. Developmental expression studies showed that alpha-tropomyosin(slow) is not expressed at significant levels...

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Source

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Identifiers

PMID: 18716557
DOI: 10.1097/NEN.0b013e318183a44f
PMCID: PMC2746243

Genes

TPM3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.PMID 18716557Read ↗

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