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GENATLAS PHENOTYPE

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)

Remark(s)