Article Text
Muscle MRI in Bethlem myopathy
Statistics from Altmetric.com
Description
A 44-year-old man presented with progressive limb girdle weakness from 10 years of age. The inheritance pattern was autosomal dominant; two siblings, his mother and maternal grandfather were similarly affected. On examination there was an exaggerated lumbar lordosis, wasting of proximal limb musculature, and contractures at elbows, wrists and finger flexors. There was moderate symmetrical proximal upper and lower limb weakness without facial weakness or cardiorespiratory involvement. Previous investigations included electromyography which was myopathic, …