A novel mutation in a large French-Canadian family with LGMD1B

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
Nicolas ChrestianNicolas Dupré

Abstract

Limb girdle muscular dystrophy type 1B is an autosomal dominant disease characterized by late onset proximal muscle involvement associated with cardiac complications such as atrioventricular conduction blocks, dilated cardiomyopathy, and sudden death. Define the full phenotypic spectrum of a new mutation in the LMNA gene causing limb girdle muscular dystrophy type 1B. We identified a large French Canadian family with the LGMD 1B phenotype and a cardiac conduction disease phenotype that carried a new mutation in the LMNA gene and sought to define its full phenotypic spectrum by performing complete neurological and cardiac evaluations, muscle biopsy, RNA and DNA studies. The proband and 12 living at risk relatives were tested. In total, we identified seven carriers of a new (IVS9-3C > G) LMNA gene mutation. Of the three symptomatic patients, all had cardiac involvement, but only two presented proximal limb weakness. The one available muscle biopsy demonstrated a normally expressed lamin A/C protein, localized at the nuclear envelope. RNA study revealed a loss of exon 10 transcription caused by the IVS9-3C to G splicing mutation. We have identified a new mutations in the LMNA gene in a French-Canadian family. This diagnosis has im...Continue Reading

References

Jan 11, 2000·Nucleic Acids Research·M BursetV V Solovyev
Jan 13, 2006·The New England Journal of Medicine·Christophe MeuneDenis Duboc
Mar 23, 2007·Neurology·S BenedettiS C Previtali

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Citations

Jan 25, 2014·Journal of Medical Genetics·Yue-Bei LuoSteve D Wilton
Jul 7, 2017·Proceedings of the National Academy of Sciences of the United States of America·Kaoru ItoJ G Seidman

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