Autosomal dominant limb girdle muscular dystrophy (LGMD1): key features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Autosomal dominant limb girdle muscular dystrophy (LGMD1): key features. This is caused by mutations in the MYOT (myotilin) gene.
LGMD 1A
- This is caused by mutations in the MYOT (myotilin) gene
- The semimembranosus is most affected
- The adjacent semitendinosus is preserved
LGMD 1B
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LGMD 1C
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LGMD 1D
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LGMD 1E
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LGMD 1F
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LGMD 1G
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LGMD 1H
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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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