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Article

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

1 Jul 1999

Abstract excerpt

The striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is controlled by a set of structural proteins, among which are titin, a giant molecule that contains several immunoglobulin (Ig)-like domains and associates with thin and thick filaments, and [alpha]-actinin, an actin...

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Identifiers

PMID: 10369880
DOI: 10.1093/hmg/8.7.1329

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Related research

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Research trail→

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Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophyPMID 10369880Read ↗

Myotilin is mutated in limb girdle muscular dystrophy 1A.Semantic proximity Read ↗

Actin-organising properties of the muscular dystrophy protein myotilin.Semantic proximity Read ↗

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Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.Semantic proximity Read ↗

Novel recessive myotilin mutation causes severe myofibrillar myopathy.Semantic proximity Read ↗

Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice.Semantic proximity Read ↗

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

Myopathies resulting from mutations in sarcomeric proteinsSemantic proximity Read ↗

Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFMSemantic proximity Read ↗

Titin is a major human disease gene.Semantic proximity Read ↗

Cytoplasmic Ig‐domain proteins: Cytoskeletal regulators with a role in human diseaseSemantic proximity Read ↗

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