Article
Dysferlin and muscular dystrophy.
Acta neurologica Belgica - 1 Sept 2000
Bushby K M
Abstract excerpt
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...
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