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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

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  • F.J.D. Smith
  • R.A.J. Eady
  • I.M. Leigh
  • J.R. McMillan
  • E.L. Rugg
  • D.P. Kelsell
  • S.P. Bryant
  • N.K. Spurr
  • J.F. Geddes
  • G. Kirtschig
  • G. Milana
  • A.G. De Bono
  • K. Owaribe
  • G. Wiche
  • L. Pulkkinen
  • J. Uitto
  • W.H.I. McLean
  • E.B. Lane

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Original languageEnglish
Pages (from-to)450-457
Number of pages8
JournalNature Genetics
Issue number4
StatePublished - 1996


We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, supportive genetic analysis (localization of the human plectin gene to chromosome 8q24.13-qter and evidence for disease segregation with markers in this region) and finally the identification of a homozygous frameshift mutation detected in plectin cDNA. Absence of the large multifunctional cytoskeleton protein plectin can simultaneously account for structural failure in both muscle and skin.



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