Author:
Sinnreich Michael,Therrien Christian,Karpati George
Abstract
The authors report a genotype-phenotype correlation in a limb-girdle muscular dystrophy 2B family. Two severely affected sisters were homozygous for a dysferlin null mutation. Their mildly affected compound heterozygous mother harbored, in addition to one null allele, an in-frame exon-skipping allele caused by a novel lariat branch point mutation. The dysferlin molecule arising from the latter allele appeared to partially complement the null mutation, likely accounting for the mother's mild phenotype.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Cited by
53 articles.
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