Journal
NEUROLOGY
Volume 66, Issue 7, Pages 1114-1116Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.wnl.0000204358.89303.81
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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.
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