Breakthrough for people with unknown muscle disease

Researchers have discovered a gene mutation in a rare new form of muscle wasting disease which will lead other sufferers to be more accurately diagnosed.

The research involved a genetic investigation of a family from Victoria with a new form of distal myopathy (muscle wasting disease). It identified a mutation in the gene encoding the filamin C protein.

Studies on the effect of the mutation in muscle cells in the laboratory showed the protein interacted and positioned itself in the cell differently when compared to normal muscle cells.

It’s the first time this type of muscle disease has been associated with a mutation in the gene for the filamin C protein.

Read more at University of Western Australia