ePrints

Dysferlin and muscular dystrophy

Lookup NU author(s): Emerita Professor Katherine Bushby

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

Abstract

The limb-girdle muscular dystrophies are a highly heterogeneous group of muscle disorders with many different genetic causes now known. Amongst the causes of LGMD, the dysferlin gene stands out as novel for several reasons. It is the first known example of a C2 domain containing protein involved in a muscular dystrophy, mutations in the gene can be involved in a variable phenotype, and a naturally occurring mouse model for dysferlin deficiency has recently been identified. This article reviews the progress made in understanding this form of limb-girdle muscular dystrophy to date.

Publication metadata

Author(s): Bushby KMD

Publication type: Article

Publication status: Published

Journal: Acta Neurologica Belgica

Year: 2000

Volume: 100

Issue: 3

Pages: 142-145

ISSN (print): 0300-9009

ISSN (electronic):

Publisher: Acta Medica Belgica

URL: http://www.actaneurologica.be/acta/download/2000-3/bushby.pdf

PubMed id: 11098285

Share