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A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia

J Med Genet. 2004 Mar;41(3):e29. doi: 10.1136/jmg.2003.013383.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Female
  • Genes, Dominant / genetics*
  • Heart Diseases / complications
  • Heart Diseases / genetics*
  • Humans
  • Lamin Type A / chemistry
  • Lamin Type A / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology
  • Mutation / genetics*
  • Nails, Malformed*
  • Pedigree

Substances

  • Lamin Type A
  • lamin C