Bethlem myopathy
A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.
MONDO:0016106
progressive muscular dystrophy
is_a
MONDO:0019950
congenital muscular dystrophy
is_a
MONDO:0019952
congenital myopathy
is_a
BTHLM1
related
Bethlem myopathy 1
related
Bethlem myopathy type 1
exact
benign autosomal dominant myopathy
exact