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Case Reports
. 2000 Dec 26;55(12):1931-3.
doi: 10.1212/wnl.55.12.1931.

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

S N Illarioshkin  1 , I A Ivanova-Smolenskaya, C R Greenberg, E Nylen, V S Sukhorukov, V V Poleshchuk, E D Markova, K Wrogemann
Affiliations
Case Reports

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

S N Illarioshkin et al. Neurology. .

Abstract

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.

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