Limb girdle muscular dystrophy type 1E (LGMD 1E)

Evidence-based neurology checklist on limb girdle muscular dystrophy type 1e (lgmd 1e): Genetics This is caused by mutations in the desmin (DES) gene on chromosome 2q The onset is in the third decade Clinical features Creatinine kinase (CK) Muscle biopsy: features

Genetics

  • This is caused by mutations in the desmin (DES) gene on chromosome 2q
  • The onset is in the third decade

Clinical features

Creatinine kinase (CK)

Muscle biopsy: features

References

  1. Sandell S, Huovinen S, Palmio J, et al. Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D. Acta Neuropathol Commun 2016; 4:9. 
  2. Ruggieri A, Saredi S, Zanotti S, Pasanisi MB, Maggi L, Mora M. DNAJB6 myopathies: focused review on an emerging and expanding group of myopathies. Front Mol Biosci 2016; 3:63. 
  3. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218. 
  4. Greenberg SA, Salajegheh M, Judge DP, et al. Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol 2012; 71:141-145. 
  5. Nam TS, Li W, Heo SH, et al. A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype. Neuromuscul Disord 2015; 25:843-851.
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