Bethlem myopathy
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Bethlem myopathy
A rare autosomal dominant proximal myopathy (OMIM:158810) of early childhood onset characterised by joint contractures, most often affecting the elbows and ankles.
Molecular pathology
Caused by defects of:
▪ COL6A1, which encodes the alpha 1 subunit;
▪ COL6A2, which encodes the alpha 2 subunit; and
▪ COL6A3, which encodes the alpha 3 subunit.Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive
Background: Collagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM).
Muscle MRI in Bethlem myopathy. BMJ Case Rep 2013;2013.
Following his father's diagnosis with
Bethlem Myopathy - a rare form of Muscular Dystrophy that affects one in 250,000 people - Adam had a chance of being diagnosed.
The US patent covers specifically the treatment or prevention of Ullrich congenital muscular dystrophy,
Bethlem myopathy, or intermediate clinical manifestations.
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