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Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy

From the Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

Address correspondence and reprint requests to Dr. Michael Sinnreich, Montreal Neurological Institute, Room 633, 3801 University Street, Montreal, Quebec H3A 2B4, Canada; e-mail: michael.sinnreich{at}mcgill.ca

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.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the April 11 issue to find the title link for this article.

This study was supported by grants from the Association Française contre les Myopathies, the Neuromuscular Research Partnership of the Canadian Institutes of Health Research, the Amyotrophic Lateral Sclerosis Society of Canada and Muscular Dystrophy Canada, and the Fonds de Recherche en Santé Quebec.

Disclosure: The authors report no conflicts of interest.

Received October 25, 2005. Accepted in final form December 29, 2005.

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