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A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report.

Juanjuan ChenJun WuChunxi HanYao LiYuzu GuoXiaoxin Tong
Published in: BMC neurology (2019)
FLNC mutation c.7123G > A, p.V2375I in the immunoglobulin (Ig)-like domain 21 can be associated with distal myopathy with typical MFM features and lower motor neuron syndrome. Although electromyographic examination of our patient showed obvious neuropathic changes, MFM could not be excluded. Therefore, genetic testing is necessary to make an accurate diagnosis.
Keyphrases
  • case report
  • late onset
  • genome wide
  • copy number
  • minimally invasive
  • high resolution
  • gene expression
  • dna methylation
  • transcription factor
  • mass spectrometry