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Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.

Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM) are autosomal recessive disorders caused by mutations in the dysferlin gene on chromosome 2p13. The authors studied a large Russian family with both LGMD2B and MM. All affected individuals, as well as one preclinical boy with dystrophic changes on muscle biopsy, were found to be homozygous for a novel dysferlin mutation, TG573/574AT (Val67Asp). This finding supports the view that additional factors (e.g., modifier genes) contribute to the phenotypic expression of causative mutations in dysferlinopathies.[1]

References

  1. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Illarioshkin, S.N., Ivanova-Smolenskaya, I.A., Greenberg, C.R., Nylen, E., Sukhorukov, V.S., Poleshchuk, V.V., Markova, E.D., Wrogemann, K. Neurology (2000) [Pubmed]
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