Bethlem myopathy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Bethlem myopathy. This is caused by mutations in the COL6 gene. The mutation causes collagen VI deficiency. Fully referenced neurology checklist.
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
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Orthopaedic features
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Rare features
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Differential diagnosis
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Muscle MRI
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Neurological investigations
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Treatments
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References
- Jobsis GJ, Boers JM, Barth PG, de Visser M. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contracture. Brain 1999; 122:649-655.
- Amato AA, Russell JA. Neuromuscular Disorders. McGraw Hill New York 2008 p556.
- Gualandi F, Urciuolo A, Martoni E, et al. Autosomal recessive Bethlem myopathy. Neurology 2009; 73:1883-1891.
- Morrow JM, Pitceathly RD, Quinlivan RM, Yousry TA. Muscle MRI in Bethlem myopathy. BMJ Case Rep 2013; 2013:bcr2013008596.
- 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.
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