Congenital muscular dystrophies: New aspects of an expanding group of disorders

Matthew T. Lisi, Ronald D. Cohn

Research output: Contribution to journalReview article

Abstract

The congenital muscular dystrophies comprise a genetically and clinically heterogeneous group of disorders characterized by early onset of progressive muscle weakness and often involvement of other organ systems such as the brain and eyes. During the last decade, significant progress has been made to further characterize various forms of congenital muscular dystrophies based on their specific genetic and clinical appearance. This review represents an overview of the recent accomplishments as they relate to clinical, diagnostic, pathogenetic and therapeutic aspects of congenital muscular dystrophies.

Original languageEnglish (US)
Pages (from-to)159-172
Number of pages14
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1772
Issue number2
DOIs
StatePublished - Feb 1 2007

Keywords

  • Dystroglycan
  • Integrins
  • Laminin-α2
  • Muscular dystrophy
  • Selenoprotein N

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology

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