Bethlem myopathy panel

Bethlem myopathy panel
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Bethlem myopathy panel is a molecular diagnostic test that screens COL6A1, COL6A2, COL6A3, and COL12A1 genes.

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Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a mutation in one of the three genes coding for type VI collagen. These include COL6A1, COL6A2, and COL6A3. Bethlem myopathy is a condition that mainly affects skeletal muscles, which are the muscles used for movement. People with this condition experience progressive muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles that can restrict movement. Approximately two-thirds of people with Bethlem myopathy over age 50 will need to use a walker or wheelchair. Bethlem myopathy panel is a molecular diagnostic test that screens COL6A1, COL6A2, COL6A3, and COL12A1 genes.

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