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A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.

AuthorsK Häffner, A Speer, C Hübner, T Voit, K Oexle
JournalHuman mutation (Hum Mutat) Vol. Suppl 1 Pg. S298-300 ( 1998) ISSN: 1059-7794 [Print] United States
PMID9452114 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA
  • Endopeptidases
  • Calpain
  • calpain p94
Topics
  • Adolescent
  • Age of Onset
  • Alternative Splicing (genetics)
  • Amino Acid Sequence
  • Binding Sites (genetics)
  • Calpain (genetics, metabolism)
  • Child
  • DNA (chemistry, genetics)
  • DNA Mutational Analysis
  • Endopeptidases (metabolism)
  • Family Health
  • Female
  • Humans
  • Male
  • Muscular Dystrophies (genetics, pathology)
  • Point Mutation
  • Reading Frames (genetics)
  • Sequence Deletion

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