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Article

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

American journal of human genetics - 1 Sept 2002

Hackman Peter, Vihola Anna, Haravuori Henna, Marchand Sylvie, Sarparanta Jaakko, De Seze Jerome, Labeit Siegfried, Witt Christian, Peltonen Leena, Richard Isabelle, Udd Bjarne

Abstract excerpt

Tibial muscular dystrophy (TMD) is an autosomal dominant late-onset distal myopathy linked to chromosome 2q31. The linked region includes the giant TTN gene, which encodes the central sarcomeric protein, titin. We have previously shown a secondary calpain-3 defect to be associated with TMD, which further underscored that titin is the candidate. We now report the first mutations in TTN to cause a human...

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Identifiers

PMID: 12145747
DOI: 10.1086/342380
PMCID: PMC379188

Genes

TTN

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.PMID 12145747Read ↗

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.Semantic proximity Read ↗

Tibial muscular dystrophy in a Belgian familySemantic proximity Read ↗

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).Semantic proximity Read ↗

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.Semantic proximity Read ↗

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.Semantic proximity Read ↗

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.Semantic proximity Read ↗

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.Semantic proximity Read ↗

Conditional Expression of Mutant M-line Titins Results in Cardiomyopathy with Altered Sarcomere StructureSemantic proximity Read ↗

Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.Semantic proximity Read ↗

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

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.Semantic proximity Read ↗

Secondary calpain3 deficiency in 2q-linked muscular dystrophySemantic proximity Read ↗

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