Limb girdle muscular dystrophy type 2O (LGMD 2O)

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

Limb girdle muscular dystrophy type 2O (LGMD 2O). This is a dystroglycanopathy. Fully referenced neurology checklist.

Genetics

  • This is a dystroglycanopathy
  • It is caused by mutations in the POMGNT1 gene

Clinical features

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Infantile phenotype

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Other POMGNT1 phenotypes

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Creatinine kinase (CK)

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Muscle biopsy: features

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Synonym

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References

  1. Clement EM, Godfrey C, Tan J, et al. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol 2008; 65:137-141. 
  2. Raducu M, Baets J, Fano O, Van Coster R, Cruces J. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. Eur J Hum Genet 2012; 20:945-952. 
  3. Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007; 130:2725-2735.

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