Article
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).
Human molecular genetics - 1 May 1999
Weiler T, Bashir R, Anderson L V, Davison K, Moss J A, Britton S, Nylen E, Keers S, Vafiadaki E, Greenberg C R, Bushby C R, Wrogemann K
Abstract excerpt
Limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), a distal muscular dystrophy, are both caused by mutations in the recently cloned gene dysferlin, gene symbol DYSF. Two large pedigrees have been described which have both types of patient in the same families. Moreover, in both pedigrees LGMD2B and MM patients are homozygous for haplotypes of the critical region. This suggested that the...
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