Myofibrillar myopathy (MFM)

Evidence-based neurology checklist on myofibrillar myopathy (mfm): Main genetic mutations BAG3 CRYAB DES DNAJB6 FHL1 FLNC LMNA TTID/MYOT TTN ZASP/LDB3 Onset features Central neurological features Peripheral neurological features Skeletal features Cardiac features Respiratory features Other…

Main genetic mutations

  • BAG3
  • CRYAB
  • DES
  • DNAJB6
  • FHL1
  • FLNC
  • LMNA
  • TTID/MYOT
  • TTN
  • ZASP/LDB3

Onset features

Central neurological features

Peripheral neurological features

Skeletal features

Cardiac features

Respiratory features

Other features

Differential diagnosis

Electromyogram (EMG)

Nerve and muscle biopsy: features

Magnetic resonance imaging (MRI) brain

Prognosis

References

  1. Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011; 21: 161-171.
  2. Semmler AL, Sacconi S, Bach JE, et al. Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. Orphanet J Rare Dis 2014; 9:121.
  3. Kley RA, Hellenbroich Y, van der Ven PFM, et al. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain 2007; 130:3250-3264.
  4. Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 2004; 127:439-451. 
  5. Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011; 21: 161-171.
  6. And 20 more. Subscribe to see the full list

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