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The Indian Journal of Pediatrics

, Volume 85, Issue 11, pp 1033–1034 | Cite as

SEPN1-related Rigid Spine Muscular Dystrophy

  • Arushi Gahlot Saini
  • Hansashree Padmanabha
  • Senthil Kumar
  • Naveen Sankhyan
  • Pratibha Singhi
Scientific Letter
  • 77 Downloads

Notes

Compliance with Ethical Standards

Conflict of Interest

None.

References

  1. 1.
    Scoto M, Cirak S, Mein R, et al. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology. 2011;76:2073–8.CrossRefGoogle Scholar
  2. 2.
    Moghadaszadeh B, Petit N, Jaillard C, et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. 2001;29:17–8.CrossRefGoogle Scholar
  3. 3.
    Sponholz S, von der Hagen M, Hahn G, et al. Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine. J Child Neurol. 2006;21:316–20.CrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  • Arushi Gahlot Saini
    • 1
  • Hansashree Padmanabha
    • 2
  • Senthil Kumar
    • 1
  • Naveen Sankhyan
    • 1
  • Pratibha Singhi
    • 3
    • 4
  1. 1.Department of PediatricsPostgraduate Institute of Medical Education and ResearchChandigarhIndia
  2. 2.Department of NeurologyNational Institute of Mental Health and NeurosciencesBengaluruIndia
  3. 3.Pediatric Neurology and NeurodevelopmentMedanta, The MedicityGurgaonIndia
  4. 4.Pediatric Neurology and Neurodevelopment, Department of Pediatrics, Advanced Pediatrics CentrePost Graduate Institute of Medical Education and ResearchChandigarhIndia

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