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GENATLAS PHENOTYPE

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

Remark(s)