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

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Limb girdle muscular dystrophy type 1C (LGMD 1C). This is caused by mutations in the CAV3 (Caveolin 3) gene on chromosome 3p.

Genetics

  • This is caused by mutations in the CAV3 (Caveolin 3) gene on chromosome 3p
  • The onset is in the first decade

Clinical features

Locked: subscribe to see this section.

Other caveolin 3 phenotypes

Locked: subscribe to see this section.

Creatinine kinase (CK)

Locked: subscribe to see this section.

Muscle biopsy: features

Locked: subscribe to see this section.

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.
  6. And 8 more. Subscribe to see the full list

Related checklists

Loading...