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Dysferlin and muscular dystrophy

Lookup NU author(s): Emerita Professor Katherine Bushby

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Abstract

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.


Publication metadata

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


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