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

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

Limb girdle muscular dystrophy type 1F (LGMD 1F). This is caused by mutations in the TNPO3 (Transportin 3) gene on chromosome 7q.

Genetics

  • This is caused by mutations in the TNPO3 (Transportin 3) gene on chromosome 7q
  • The mutation seems to protect against HIV infection

Clinical features

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Muscle biopsy: features

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References

  1. Torella A, Fanin M, Mutarelli M, et al. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One 2013; 8:e63536.
  2. Peterle E, Fanin M, Semplicini C, Padilla JJ, Nigro V, Angelini C. Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. J Neurol 2013; 260:2033-2041.  
  3. Palenzuela L, Andreu AL, Gàmez J, et al. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology 2003; 61:404-406.
  4. Rodríguez-Mora S, De Wit F, García-Perez J, et al. The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection. PLoS Pathog 2019; 15:e1007958.
  5. Vihola A, Palmio J, Danielsson O, et al. Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression. Neurol Genet 2019; 5:e337.
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