Autosomal recessive limb girdle muscular dystrophy (LGMD2): key features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Autosomal recessive limb girdle muscular dystrophy (LGMD2): key features. This is caused by mutations in the CAPN3 (calpain 3) gene.
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
Locked: subscribe to see this section.
LGMD 2C
Locked: subscribe to see this section.
LGMD 2D
Locked: subscribe to see this section.
LGMD 2E
Locked: subscribe to see this section.
LGMD 2F
Locked: subscribe to see this section.
LGMD 2G
Locked: subscribe to see this section.
LGMD 2H
Locked: subscribe to see this section.
LGMD 2I
Locked: subscribe to see this section.
LGMD 2J
Locked: subscribe to see this section.
LGMD 2K
Locked: subscribe to see this section.
LGMD 2L
Locked: subscribe to see this section.
LGMD 2M
Locked: subscribe to see this section.
LGMD 2N
Locked: subscribe to see this section.
LGMD 2O
Locked: subscribe to see this section.
LGMD 2P
Locked: subscribe to see this section.
LGMD 2Q
Locked: subscribe to see this section.
LGMD 2R
Locked: subscribe to see this section.
LGMD 2S
Locked: subscribe to see this section.
LGMD 2T
Locked: subscribe to see this section.
LGMD 2U
Locked: subscribe to see this section.
LGMD 2V
Locked: subscribe to see this section.
LGMD 2W
Locked: subscribe to see this section.
LGMD 2X
Locked: subscribe to see this section.
LGMD 2Y
Locked: subscribe to see this section.
LGMD 2Z
Locked: subscribe to see this section.
References
- Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218.
- Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12.
- Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009; 9:314-323.
- 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.
- 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.
- And 2 more. Subscribe to see the full list
