BAG3-related myofibrillar myopathy in a Chinese family
Article first published online: 4 APR 2011
© 2011 John Wiley & Sons A/S
Volume 81, Issue 4, pages 394–398, April 2012
How to Cite
Lee, H., Cherk, S., Chan, S., Wong, S., Tong, T., Ho, W., Chan, A., Lee, K. and Mak, C. (2012), BAG3-related myofibrillar myopathy in a Chinese family. Clinical Genetics, 81: 394–398. doi: 10.1111/j.1399-0004.2011.01659.x
- Issue published online: 14 MAR 2012
- Article first published online: 4 APR 2011
- Accepted manuscript online: 1 MAR 2011 10:35AM EST
- Received 23 December 2010, revised and accepted for publication 25 February 2011
- myofibrillar myopathy
Lee HC, Cherk SW, Chan SK, Wong S, Tong TW, Ho WS, Chan AY, Lee KC, Mak CM. BAG3-related myofibrillar myopathy in a Chinese family.
In contrast to the usual slow disease progression in myofibrillar myopathies, patients with Bag3opathy often have a rapidly progressive and more severe phenotype with a worse prognosis. We describe a Chinese patient, born to non-consanguineous parents, who first presented at age 6 with clumsy walking and difficult climbing staircase. With a history of restrictive lung disease previously diagnosed as asthma, she progressed rapidly with proximal myopathy, rigid spine and bilateral tightening of the Achilles tendons requiring surgical elongation. Hypertrophic cardiomyopathy with restrictive physiology was shown by echocardiogram. Moreover, prolonged QT interval was also noted in the patient. Family history was unremarkable yet her father was incidentally found to have prolonged QT interval. Mutation analysis with genomic DNA of the proband showed heterozygous de novo known mutation c.626C>T (p.Pro209Leu) and a germline variation c.772C>T (p.Arg258Trp) in BAG3. Her father was found to be a carrier of c.772C>T. Muscle biopsy findings were suggestive of myofibrillar myopathy on light microscopy and ultrastructural studies. To our knowledge, this is the first Chinese case of Bag3opathy so far reported.