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Neuromuscular disease

Diagnosis and discovery in limb-girdle muscular dystrophy

Whole-exome sequencing is a new tool for neuromuscular clinicians, and recent findings show that it improves the diagnosis of limb-girdle muscular dystrophy. The technique has a dual role as a tool for diagnosis and discovery in genetically heterogeneous neuromuscular diseases.

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Figure 1: Overlap between the genes causing the limb-girdle muscular dystrophies and congenital muscular dystrophies.

References

  1. Ghaoui, R. et al. Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned. JAMA Neurol. http://dx.doi.org/10.1001/jamaneurol.2015.2274 (2015).

  2. Fanin, M., Nascimbeni, A. C. & Angelini, C. Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients. Clin. Neuropathol. 33, 179–185 (2014).

    Article  Google Scholar 

  3. Fanin, M. et al. Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Neurology 72, 1432–1435 (2009).

    Article  CAS  Google Scholar 

  4. Bonne, G., Leturcq, F. & Ben Yaou, R. Emery–Dreifuss muscular dystrophy. GeneReviews [online], (2015).

  5. Lo, H. P. et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul. Disord. 18, 34–44 (2008).

    Article  Google Scholar 

  6. Narayanaswami, P. et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular and Electrodiagnostic Medicine. Neurology 83, 1453–1463 (2014).

    Article  Google Scholar 

  7. Fanin, M. et al. Dominant muscular dystrophy with a novel SYNE1 gene mutation. Muscle Nerve 51, 145–147 (2015).

    Article  CAS  Google Scholar 

  8. Savarese, M. et al. Next generation sequencing on patients with LGMD and nonspecific myopathies: findings associated with ANO5 mutations. Neuromuscul. Disord. 25, 533–541 (2015).

    Article  Google Scholar 

  9. Torella, A. et al. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS ONE 8, e63536 (2013).

    Article  CAS  Google Scholar 

  10. Angelini, C. Spectrum of metabolic myopathies. Biochim. Biophys. Acta 1852, 15–21 (2015).

    Google Scholar 

Download references

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Correspondence to Corrado Angelini.

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Angelini, C. Diagnosis and discovery in limb-girdle muscular dystrophy. Nat Rev Neurol 12, 6–8 (2016). https://doi.org/10.1038/nrneurol.2015.230

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