Autosomal dominant limb girdle muscular dystrophy (LGMD1): key features
Evidence-based neurology checklist on autosomal dominant limb girdle muscular dystrophy (lgmd1): key features: LGMD 1A This is caused by mutations in the MYOT (myotilin) gene The semimembranosus is most affected The adjacent semitendinosus is preserved LGMD 1B LGMD 1C LGMD 1D LGMD 1E LGMD 1F LGMD…
LGMD 1A
- This is caused by mutations in the MYOT (myotilin) gene
- The semimembranosus is most affected
- The adjacent semitendinosus is preserved
LGMD 1B
LGMD 1C
LGMD 1D
LGMD 1E
LGMD 1F
LGMD 1G
LGMD 1H
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.
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