Ontology highlight
ABSTRACT:
SUBMITTER: Straub V
PROVIDER: S-EPMC4514698 | biostudies-other | 2008 Oct
REPOSITORIES: biostudies-other
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 20081001 4
Fourteen years ago, the first disease-causing mutation in a form of autosomal recessive limb-girdle muscular dystrophy was reported. Since then the number of genes has been extended to at least 14 and the phenotypic spectrum has been broadened. The generation of mouse models helped to improve our understanding of the pathogenesis of the disease and also served to study therapeutic possibilities. All autosomal recessive limb-girdle muscular dystrophies are rare diseases, which is one reason why t ...[more]