Article
Challenges for the genetic screening in dysferlin deficiency--report of an instructive case and review of the literature.
Clinical neuropathology - 1 Jan 2000
Gal A, Siska E, Nagy Z, Karpati G, Molnar M J
Abstract excerpt
The homozygous or compound heterozygous mutation of the alleles of DYSF gene causes dysferlinopathy resulting in limb girdle muscular dystrophy Type 2B (LGMD 2B) or Miyoshi myopathy. However, patients with only 1 (heterozygous) mutation on 1 allele are increasingly recognized. Based on the Leiden database (www.dmd.nl) among 257 different mutations resulting in dysferlin-deficient muscular dystrophy, pathogenic...
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