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Wednesday, 12 December, 2001, 00:00 GMT
Gene clue to muscular dystrophy
Premature baby
Muscular dystrophy is caused by genetic mutations
Scientists have discovered a genetic link between two types of a severe muscle-wasting disease.

They say the discovery brings them closer to understanding muscular dystrophy which until recently has baffled doctors.


This is a valuable finding

Sarah Yates, Muscular Dystrophy Campaign
Scientists from Hammersmith Hospital in London and Oxford University have found that a newly discovered gene when mutated is responsible for both congenital and limb girdle muscular dystrophy.

Congenital MD usually affects infants while limb girdle MD can start in late childhood or adulthood and generally causes weakness in the shoulder or pelvic girdle.

'Rewarding'

Professor Francesco Muntoni from Hammersmith Hospital said the discovery could help improve diagnoses and treatment of patients.

"The identification of this new disease gene has been particularly rewarding. We initially recognised this form of congenital muscular dystrophy as a novel and distinct clinical entity.

"Identifying mutations in this gene that also cause a common form of limb girdle muscular dystrophy means that we can understand in part the mechanism of these diseases."

He added: "We believe that this mechanism may well be recognised in many more forms of muscular dystrophies in the future."

Writing in the latest issue of Human Molecular Genetics, Prof Muntoni said he believes the mutation could be associated with further disorders.

Sarah Yates, director of scientific affairs at the Muscular Dystrophy Campaign, praised the work.

"This is a valuable finding since identification of the protein involved in these two muscle disorders will allow scientists to work out how best to intervene in the disease process.

"Establishing the function and interactions of this new protein is likely to identify causal links between a range of different forms of muscular dystrophy."

See also:

26 Nov 01 | Health
Muscular dystrophy breakthrough
03 Nov 01 | Health
Muscular dystrophy 'hits poor'
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