Hereditary myopathy with early respiratory failure (HMERF)

Evidence-based neurology checklist on hereditary myopathy with early respiratory failure (hmerf): Genetics This is a titinopathy It is caused by mutations in the titin (TTN) gene The gene encodes fibronectin 3 (FN3) TTN gene related disorders Clinical features Differential diagnosis: other…

Genetics

  • This is a titinopathy
  • It is caused by mutations in the titin (TTN) gene
  • The gene encodes fibronectin 3 (FN3)

TTN gene related disorders

Clinical features

Differential diagnosis: other myopathies with respiratory involvement

Magnetic resonance imaging (MRI): affected muscles

Muscle biopsy: features

Acronym

References

  1. Uruha A, Nishino I. Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare. JNNP 2014; 85:248.
  2. Pfeffer G, Barresi R, Wilson IJ, et al. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. JNNP 2014; 85:331-338.
  3. Pfeffer G, Elliott HR, Griffin H, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012; 135:1695-1713.
  4. Palmio J, Evila A, Chapon F, et al. Hereditary myopathy with early respiratory failure: occurrence in various populations. JNNP 2014; 85:345-353.
  5. Uruha A, Hayashi YK, Oya Y, et al. Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. JNNP 2015; 86:483-489.
  6. And 3 more. Subscribe to see the full list

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