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Neurology 2000;55:1931-1933
© 2000 American Academy of Neurology
Brief Communications

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

S. N. Illarioshkin, MD, PhD, I. A. Ivanova–Smolenskaya, MD, PhD, C. R. Greenberg, MD, CM, E. Nylen, V. S. Sukhorukov, MD, PhD, V. V. Poleshchuk, MD, E. D. Markova, MD and K. Wrogemann, MD, PhD

From the Department of Neurogenetics (Drs. Illarioshkin, Ivanova–Smolenskaya, Poleshchuk, and Markova), Institute of Neurology, Russian Academy of Medical Sciences; Department of Pathomorphology (Dr. Sukhorukov), Institute of Paediatrics and Child Surgery, Moscow, Russia; and the Departments of Biochemistry and Medical Genetics (Drs. Greenberg, Nylen, and Wrogemann), and Pediatrics and Child Health (Drs. Greenberg and Wrogemann), University of Manitoba, Winnipeg, Canada.

Address correspondence and reprint requests to Dr. Sergei N. Illarioshkin, Department of Neurogenetics,, Institute of Neurology, Russian Academy of Medical Sciences, Volokolamskoye Shosse 80, Moscow 1233671, Russia; e-mail: neurogen{at}online.ru

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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