Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy.

Abstract excerpt

INTRODUCTION: Bethlem myopathy is a kind of collagen VI related myopathy which affects proximal skeletal muscles and leads to gait disturbance and multiple joint contractures with an onset in the first two decades of life. Lung function impairment (respiratory muscle and diaphragmatic weakness, ventilatory restriction, hypoxaemia and hypercapnia) and respiratory failure are part of the clinical spectrum and can...

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