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

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.

• Authors: S N Illarioshkin, I A Ivanova-Smolenskaya, C R Greenberg, E Nylen, V S Sukhorukov, V V Poleshchuk, E D Markova, K Wrogemann
• Journal: Neurology (Neurology) Vol. 55 Issue 12 Pg. 1931-3 (Dec 26 2000) ISSN: 0028-3878 [Print] United States
• PMID: 11134403 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DYSF protein, human
• Dysferlin
• Membrane Proteins
• Muscle Proteins

Topics

• Adult
• Child
• Dysferlin
• Female
• Humans
• Male
• Membrane Proteins
• Muscle Proteins (genetics)
• Muscles (pathology)
• Muscular Dystrophies (genetics, pathology)
• Mutation (genetics)
• Pedigree
• Phenotype