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Lookup NU author(s): Emerita Professor Katherine Bushby
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The molecular genetic investigation of large families with a diagnosis of limb-girdle muscular dystrophy (LGMD) has allowed a complete reclassification of this complex group based on their molecular pathology. We defined a group of families where a form of LGMD could be localised to chromosome 2 p13. Subsequently families with Miyoshi myopathy, a distal form of muscular dystrophy, were also shown to map to this locus. Mutations in the dysferlin gene are now known to underlie both of these apparently clinically distinct phenotypes, and in some families even the same mutation may result in a different clinical presentation. The dysferlin gene encodes a novel mammalian protein, with homology only to a protein a c elegants, fer- 1. The function of fer 1 in c legans is related to membrane fusion in spermatogenesis, and conserved domains in the human protein suggest it may have a similar role in other tissues in humans. Studies of the expression of the gene and protein in adult and fetal muscle are expected to shed further insights into the role of this novel gene, as well as allowing the study of the relationship of the gene defect to the variable phenotypes.
Author(s): Bushby KMD
Publication type: Article
Publication status: Published
Journal: Clinical Neurology
Year: 1999
Volume: 39
Issue: 12
Pages: 1271
Print publication date: 01/01/1999
ISSN (print): 0009918X
ISSN (electronic):
Publisher: Japanese Society of Neurology
Notes: Journal title also known as: Rinsho Shinkeigaku
