Congenital Fibre Type Disproportion (CFTD): Disease patterns and pathogenesis of muscle weakness

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/571287

Funding Status
Closed

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Funded Activity Summary

Congenital Fibre Type Disproportion (CFTD) is a type of genetic muscle disease that is caused by changes (mutations) in several different genes. Affected children usually have general muscle weakness from birth. We will compare medical findings and muscle MRI scans in different CFTD patients to develop guidelines for the care and diagnosis of CFTD patients. We will also study how gene mutations lead to weakness and the abnormalities seen on the muscle biopsy, focusing on the TPM3 gene.

Funded Activity Details

Start Date: 01-01-2009

End Date: 01-01-2011

Funding Scheme: NHMRC Project Grants

Funding Amount: $264,816.00

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

Clinical spectrum of congenital fibre type disproportion | Defining how dominant TPM3 mutations cause weakness | Evaluating the role of muscle MRI in CFTD | Improving diagnosis in congenital fibre type disproportion | Investigating causes of type 1 fibre hypotrophy in CFTD | Secondary maladaptive changes in genetic muscle disease | mechanisms of muscle weakness in congenital myopathies

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