Dysferlin and muscular dystrophy.
Copyright policy )Dysferlin and muscular dystrophy.
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.
- Newcastle University United Kingdom
Mutation, Missense, Membrane Proteins, Muscle Proteins, Muscular Dystrophies, Disease Models, Animal, Mice, Phenotype, Codon, Nonsense, Animals, Humans, Muscle, Skeletal, Creatine Kinase, Dysferlin, Sequence Analysis
Mutation, Missense, Membrane Proteins, Muscle Proteins, Muscular Dystrophies, Disease Models, Animal, Mice, Phenotype, Codon, Nonsense, Animals, Humans, Muscle, Skeletal, Creatine Kinase, Dysferlin, Sequence Analysis
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).22 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!