Autosomal recessive limb girdle muscular dystrophy (LGMD2): key features

Evidence-based neurology checklist on autosomal recessive limb girdle muscular dystrophy (lgmd2): key features: LGMD 2A This is caused by mutations in the CAPN3 (calpain 3) gene There is early involvement of the posterior thigh muscles and hip adductors There are early and severe contractures LGMD…

LGMD 2A

  • This is caused by mutations in the CAPN3 (calpain 3) gene
  • There is early involvement of the posterior thigh muscles and hip adductors
  • There are early and severe contractures

LGMD 2B

LGMD 2C

LGMD 2D

LGMD 2E

LGMD 2F

LGMD 2G

LGMD 2H

LGMD 2I

LGMD 2J

LGMD 2K

LGMD 2L

LGMD 2M

LGMD 2N

LGMD 2O

LGMD 2P

LGMD 2Q

LGMD 2R

LGMD 2S

LGMD 2T

LGMD 2U

LGMD 2V

LGMD 2W

LGMD 2X

LGMD 2Y

LGMD 2Z

References

  1. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218.
  2. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  3. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009; 9:314-323. 
  4. 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. 
  5. 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.
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