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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 1a (lgmd 1a): Genetics This is caused by mutations in the myotilin (MYOT) gene It may demonstrate genetic anticipation It is middle to late adult onset Clinical features Creatinine kinase (CK) Muscle biopsy: features…

Genetics

  • This is caused by mutations in the myotilin (MYOT) gene
  • It may demonstrate genetic anticipation
  • It is middle to late adult onset

Clinical features

Creatinine kinase (CK)

Muscle biopsy: features

Magnetic resonance imaging (MRI) muscle

References

  1. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218.
  2. Di Fruscio G, Garofalo A, Mutarelli M, Savarese M, Nigro V. Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic? Eur J Hum Genet 2016; 24:73-77. 
  3. Norwood F, de Visser M, Eymard B, et al. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neurol 2007; 14:1305-1312.
  4. Wicklund MP, Hilton-Jones D. The limb-girdle muscular dystrophies. Neurology 2003; 60:1230-1231.
  5. Norwood F, de Visser M, Eymard B, Lochmuller H, Bushby K. Limb girdle muscular dystrophies. In: Gilhus NE, Barnes MP, Brainin M (eds). European Handbook of Neurological Management 2011, 2nd edition, Blackwell Vol 2 pp363-371.
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