Limb girdle muscular dystrophy type 2M (LGMD 2M)

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2m (lgmd 2m): Genetics This is Fukuyama congenital muscular dystrophy It is a dystroglycanopathy It is caused by mutations in the FKTN (Fukutin) gene It mainly affects Japanese The onset is in early childhood: ages 4 months…

Genetics

  • This is Fukuyama congenital muscular dystrophy
  • It is a dystroglycanopathy
  • It is caused by mutations in the FKTN (Fukutin) gene
  • It mainly affects Japanese
  • The onset is in early childhood: ages 4 months to 4 years
  • It was formerly designated LGMD2L

Clinical features

Differential diagnosis

Investigations

Treatment

Synonym

References

  1. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218.
  2. Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007; 130:2725-2735.
  3. Godfrey C, Escolar D, Brockington M, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol 2006; 60:603-610.
  4. Mercuri E, Messina S, Bruno C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009; 72:1802-1809. 
  5. Matsui M, Endo T, Matsumura T, Saito T, Fujimura H. A case of limb-girdle muscular dystrophy 2M diagnosed by the occurence of dilated cardiomyopathy. Rinsho Shinkeigaku 2015; 55:585-588. 
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