Bethlem myopathy

Evidence-based neurology checklist on bethlem myopathy: Pathology This is caused by mutations in the COL6 gene The mutation causes collagen VI deficiency The transmission is typically autosomal dominant There are reports of autosomal recessive transmission Neurological features Orthopaedic…

Pathology

  • This is caused by mutations in the COL6 gene
  • The mutation causes collagen VI deficiency
  • The transmission is typically autosomal dominant
  • There are reports of autosomal recessive transmission

Neurological features

Orthopaedic features

Rare features

Differential diagnosis

Muscle MRI

Neurological investigations

Treatments

References

  1. Jobsis GJ, Boers JM, Barth PG, de Visser M. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contracture. Brain 1999; 122:649-655.
  2. Amato AA, Russell JA. Neuromuscular Disorders. McGraw Hill New York 2008 p556.
  3. Gualandi F, Urciuolo A, Martoni E, et al. Autosomal recessive Bethlem myopathy. Neurology 2009; 73:1883-1891.
  4. Morrow JM, Pitceathly RD, Quinlivan RM, Yousry TA. Muscle MRI in Bethlem myopathy. BMJ Case Rep 2013; 2013:bcr2013008596.
  5. Huynh W, Davis MR. Facial weakness and eyelid ptosis: expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation. Muscle Nerve 2017; 55:E2-E3.
  6. And 2 more. Subscribe to see the full list

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