Bethlem myopathy

Definition:

Bethlem myopathy is one of the collagen VI myopathies, caused by mutation of COL6A. Bethlem myopathy is usually inherited in an autosomal dominant manner, but a rare autosomal recessive inheritance has recently been reported. This disease is characterized by a combination of proximal muscle weakness and contractures of finger, elbow, and ankle joints.

References:

[1]. Debbie Hicks, et al. Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Hum Mol Genet. 2014 May 1;23(9):2353-63. [Content Brief]

[2]. F Gualandi, et al. Autosomal recessive Bethlem myopathy. Neurology. 2009 Dec 1;73(22):1883-91. [Content Brief]

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