Investigation of childhood onset distal myopathy myosin variants

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/254544

Funding Status
Closed

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Funded Activity Summary

This project aims to continue the research of this laboratory into the distal myopathies, a group of largely enigmatic genetic disorders, which most severely affect selected distal limb muscles, in other words mostly hand and foot muscles. The project has two parts. The first part aims to determine what causes the childhood onset distal myopathy which we first identified in a West Australian family. We localised the disease gene in this family to chromosome 14 in the first linkage of a distal myopathy and researching this family and similar families from Europe we may have identified the gene. This project aims to prove that the candidate disease gene is the disease gene. The second part of the project aims to investigate another unknown distal myopathy in another Australian family, to try to localise and identify this disease gene.

Funded Activity Details

Start Date: 01-01-2003

End Date: 01-01-2005

Funding Scheme: NHMRC Project Grants

Funding Amount: $235,500.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Neurology And Neuromuscular Diseases

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

degenerative skeletal muscle diseases | disease gene | distal myopathy | inherited diseases | linkage analysis | molecular basis of disease | molecular pathogenesis | muscle pathologies | myopathies | sarcomeric proteins - myosin

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