Article
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.
Neurology - 26 Dec 2000
Illarioshkin S N, Ivanova-Smolenskaya I A, Greenberg C R, Nylen E, Sukhorukov V S, Poleshchuk V V, Markova E D, Wrogemann K
Abstract excerpt
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...
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