Markesbery-Griggs distal myopathy

Evidence-based neurology checklist on markesbery-griggs distal myopathy: Genetics This is a zaspopathy It is caused by mutations in the ZASP gene The transmission is autosomal dominant The onset age is >40 years Neurological features Cardiac features Investigations Synonym

Genetics

  • This is a zaspopathy
  • It is caused by mutations in the ZASP gene
  • The transmission is autosomal dominant
  • The onset age is >40 years

Neurological features

Cardiac features

Investigations

Synonym

References

  1. Dimachkie MM, Barohn RJ. Distal myopathies. Neurol Clin 2014; 32:817-842.
  2. Griggs RC, Udd BA. Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification. Neuromolecular Med 2011; 13:27-30. 
  3. Griggs R, Vihola A, Hackman P, et al. Zaspopathy in a large classic late-onset distal myopathy family. Brain 2007; 130:1477-1484.
  4. Strach K, Reimann J, Thomas D, Naehle CP, Kress W, Kornblum C. ZASPopathy with childhood-onset distal myopathy. J Neurol 2012; 259:1494-1496.

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