Cite

    N Deconinck et al.. “Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.” Journal of neurology, neurosurgery and psychiatry, vol. 86, no. 12, 2015, pp. 1337–1346. http://access.bl.uk/ark:/81055/vdc_100137783859.0x00003b