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Article

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.

The Journal of biological chemistry - 24 Sept 2010

Sarparanta Jaakko, Blandin Gaëlle, Charton Karine, Vihola Anna, Marchand Sylvie, Milic Astrid, Hackman Peter, Ehler Elisabeth, Richard Isabelle, Udd Bjarne

Abstract excerpt

Mutations in the C terminus of titin, situated at the M-band of the striated muscle sarcomere, cause tibial muscular dystrophy (TMD) and limb-girdle muscular dystrophy (LGMD) type 2J. Mutations in the protease calpain 3 (CAPN3), in turn, lead to LGMD2A, and secondary CAPN3 deficiency in LGMD2J suggests that the pathomechanisms of the diseases are linked. Yeast two-hybrid screens carried out to elucidate the...

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Source

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Identifiers

PMID: 20634290
DOI: 10.1074/jbc.M110.108720
PMCID: PMC2943315

Genes

CAPN3
CMYA5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.PMID 20634290Read ↗

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