A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

J Med Genet. 2003 Dec;40(12):942-8. doi: 10.1136/jmg.40.12.942.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • Cartilage Oligomeric Matrix Protein
  • Child
  • Collagen Type IX / genetics
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Glycoproteins / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Matrilin Proteins
  • Muscle Weakness / diagnosis
  • Muscle Weakness / genetics*
  • Mutation*
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology
  • Pedigree
  • Radiography

Substances

  • Cartilage Oligomeric Matrix Protein
  • Collagen Type IX
  • Extracellular Matrix Proteins
  • Glycoproteins
  • Matrilin Proteins
  • TSP5 protein, human

Associated data

  • OMIM/120165
  • OMIM/120260
  • OMIM/120270
  • OMIM/132400
  • OMIM/226900
  • OMIM/600310
  • OMIM/602109