Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 09-06-2010
Symbol MYSC
Location 21q22.3
Name myosclerosis
Other name(s) myosclerosis congenital of Lowenthal
Corresponding gene COL6A2
Main clinical features
  • symmetrical congenital contractures of the joints
  • difficulty in running and climbing stairs and Achilles tendon contractures during early childhood, followed by progressive contractures of all joints, including jaws, spine, shoulders, elbows, wrists, fingers, hips, and knees
  • skeletal muscle biopsies showed a myopathic pattern with fibrosis, proliferation of endomysial and perimysial connective tissue, variation of myofiber diameter, and internal nuclei
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease