Investigation of childhood onset distal myopathy myosin variants [ 2003 - 2005 ]

Also known as: Investigation of childhood muscle disease

Research Grant

[Cite as]

Researchers: Prof Nigel Laing (Principal investigator) ,  Prof Peter Gunning

Brief description 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.

Funding Amount $AUD 235,500.00

Funding Scheme NHMRC Project Grants

Notes Standard Project Grant

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