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GENATLAS PHENOTYPE
last update : 3/03/2007
Symbol BTHM1
Location 21q22.3
Name Bethlem myopathy 1
Corresponding gene COL6A1 , COL6A2
Main clinical features
  • limb girdle muscular dystrophy, early onset, benign, slowly progressive, with early flexion contractures of the finger, and a secundary decrease in LAMB1 expression
    • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name collagen type VI, alpha 1 or 2 (COL6A1,COL6A2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   unknown splice site mutations within the N1 domain of COL6A1 or C1 domain of COL6A2