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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 1b (lgmd 1b): Genetics This is a laminopathy It is caused by mutations in the LMNA (Lamin A/C) gene on chromosome 1q22 Neurological features Cardiac features Other features Differential diagnosis: of contractures Magnetic…

Genetics

  • This is a laminopathy
  • It is caused by mutations in the LMNA (Lamin A/C) gene on chromosome 1q22

Neurological features

Cardiac features

Other features

Differential diagnosis: of contractures

Magnetic resonance imaging (MRI): muscles affected

Other investigations

Treatment

References

  1. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  2. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218.
  3. 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. 
  4. 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.
  5. Wicklund MP, Hilton-Jones D. The limb-girdle muscular dystrophies. Neurology 2003; 60:1230-1231.
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