Human Molecular Genetics, 1999, Vol. 8, No. 10 1875-1882
© 1999 Oxford University Press
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The limb-girdle muscular dystrophies—multiple genes,multiple mechanisms
Department of Human Genetics, 19/20 Claremont Place,Newcastle upon Tyne NE2 4AA, UK
ABSTRACT
In the field of muscular dystrophy, advances in understandingthe molecular basis of the various disorders in this group havebeen rapidly translated into readily applicable diagnostic tests,allowing the provision of more accurate prognostic and genetic counselling.The limb-girdle muscular dystrophies (LGMD) have recently undergonea major reclassification according to their genetic basis. Currently13 different types can be recognized. Amongst this group, increasingdiversity of the mechanisms involved in producing a muscular dystrophyphenotype is emerging. Recent insights into the involvement of thedystrophin glycoprotein complex in muscular dystrophy suggests thatits members may play distinct or even multiple roles in the maintenanceof muscle fibre integrity. In other forms of LGMD, proteins havebeen implicated which may be important in intracellular signalling,vesicle trafficking or the control of transcription. As these variousmechanisms are more fully elucidated, further insights will be gainedinto the pathophysiology of muscular dystrophy. At a practical level,despite the marked heterogeneity of this group real progress canat last be made in determining a precise diagnosis.
FOOTNOTES
a Tel: +44191 222 7461; Fax: +44 191 222 7143; Email: kate.bushby{at}ncl.ac.uk
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