Congenital Fibre Type Disproportion (CFTD): Disease patterns and pathogenesis of muscle weakness [ 2009 - 2011 ]

Research Grant

Researchers: A/Pr Nigel Clarke (Principal investigator) ,  Dr Biljana Ilkovski ,  Prof Kathryn North

Brief description 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.

Funding Amount $AUD 264,816.34

Funding Scheme NHMRC Project Grants

Notes Standard Project Grant