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Article

Telethonin protein expression in neuromuscular disorders.

Biochimica et biophysica acta - 9 Oct 2002

Vainzof Mariz, Moreira Eloisa S, Suzuki Oscar T, Faulkner Georgine, Valle Georgio, Beggs Alan H, Carpen Olli, Ribeiro Alberto F, Zanoteli Edmar, Gurgel-Gianneti Juliana, Tsanaclis Ana Maria, Silva Helga C A, Passos-Bueno Maria Rita, Zatz Mayana

Abstract excerpt

Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles. Mutations in the telethonin gene cause limb-girdle muscular dystrophy type 2G (LGMD2G). We investigated the sarcomeric integrity of muscle fibers in LGMD2G patients, through double immunofluorescen...

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Source

Identifiers

PMID: 12379311
DOI: 10.1016/s0925-4439(02)00113-8

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12379311-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Telethonin protein expression in neuromuscular disorders.PMID 12379311Read ↗

Early and selective disappearance of telethonin protein from the sarcomere in neurogenic atrophy.Semantic proximity Read ↗

Telethonin and other new proteins of the Z-disc of skeletal muscle.Semantic proximity Read ↗

The Z-disk diseases.Semantic proximity Read ↗

Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G.Semantic proximity Read ↗

Dysferlin protein analysis in limb-girdle muscular dystrophies.Semantic proximity Read ↗

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophySemantic proximity Read ↗

The novel sarcomeric protein telethonin exhibits developmental and functional regulation.Semantic proximity Read ↗

Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.Semantic proximity Read ↗

Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.Semantic proximity Read ↗

Sorting of a nonmuscle tropomyosin to a novel cytoskeletal compartment in skeletal muscle results in muscular dystrophy.Semantic proximity Read ↗

Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods.Semantic proximity Read ↗

Telethonin deficiency is associated with maladaptation to biomechanical stress in the mammalian heart.Semantic proximity Read ↗

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