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last update : 05-06-2013
Symbol BTHM2
Location 2q37.3
Name Bethlem myopathy 2
Corresponding gene COL6A3
Main clinical features
  • muscular dystrophy, benign, congenital, with early flexion contracture of the fingers
  • moderate weakness and atrophy of the muscles of the trunk and limbs, the proximal muscles being more involved than the distal muscles, and the extensors more than the flexors
  • unusual skin features may be present in some Bethlem myopathy patients, including follicular hyperkeratosis, keloid formation, and 'cigarette paper' scarring over the knees.
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name collagen type VI, alpha 3 (COL6A3)